{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T02:52:07Z","timestamp":1794019927408,"version":"4.8.0"},"reference-count":93,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T00:00:00Z","timestamp":1756771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T00:00:00Z","timestamp":1756771200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Department of Biotechnology, Government of India","award":["BT\/PR39587\/MED\/12\/851\/2020"],"award-info":[{"award-number":["BT\/PR39587\/MED\/12\/851\/2020"]}]},{"name":"FRIGE-Bakeri Rare Disease Fund","award":["FRIGE-Bakeri Rare Disease Fund"],"award-info":[{"award-number":["FRIGE-Bakeri Rare Disease Fund"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Rare genetic disorders are increasingly diagnosed due to advancing genetic technology, whilst, treatment for them is challenging. Therefore, their prevention by prenatal diagnosis is a way forward to reduce the overall burden. The present study provides an overview of a cohort of patients who were offered prenatal diagnosis for genetic disorders at a tertiary genetic center in India.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The study included 1,738 prenatal samples for the period of 2008 to 2022, identified as being at high risk for rare genetic disorders based on family history, previous affected children, and abnormal ultrasound findings. Participants underwent prenatal diagnostic tests, including chorionic villus sampling or amniocentesis, or fetal blood by various molecular techniques and enzyme-based studies. Data regarding patient demographics, types of disorders screened, and diagnostic outcomes were collected and analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of the 1738 cases, 467 (26.87%) prenatal samples were identified as being affected by genetic anomalies. The diagnosed conditions included hematological disorders (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009735\/1738, 42.28%), inborn errors in metabolism (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009513\/1738, 29.52%), neurological disorders (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009310\/1738, 17.84%), musculoskeletal disorders (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200945\/1738, 2.59%), and other rare genetic disorders (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009135\/1738, 7.77%). Early diagnosis facilitated timely medical information and provided options for prevention, such as medical termination of pregnancy (MTP) in affected cases after genetic counseling.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our study demonstrates that prenatal diagnosis for rare genetic disorders is an invaluable step toward reducing the burden of these conditions. The use of advanced genetic techniques, combined with genetic counseling, enables effective prevention strategies. However, challenges such as accessibility, cost, and ethical considerations continue to pose barriers to widespread implementation in India. Increased awareness and government policy support are essential to make these diagnostic services universally available and affordable.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-025-04003-9","type":"journal-article","created":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T09:30:58Z","timestamp":1756805458000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prenatal diagnosis of rare genetic disorders: fourteen years\u2019 experience of a tertiary genetic centre from India"],"prefix":"10.1186","volume":"20","author":[{"given":"Jayesh","family":"Sheth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tejasvi","family":"Dhondekar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manali","family":"Ajagekar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaitanya","family":"Datar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Archana","family":"Kher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jigish","family":"Trivedi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swati","family":"Thakkar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajit","family":"Gandhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meenakshi","family":"Soni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayank","family":"Chaudhary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manish","family":"Banker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anil","family":"Jalan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamta","family":"Muranjan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sujal","family":"Munshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ami","family":"Munshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mili","family":"Pandya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jhanvi","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aadhira","family":"Nair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riddhi","family":"Bhavsar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frenny","family":"Sheth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9626-0971","authenticated-orcid":false,"given":"Harsh","family":"Sheth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,9,2]]},"reference":[{"key":"4003_CR1","unstructured":"ProductDevelopment, I of M (US) C on ARDR and, Field O, Boat MJ. TF. Profile of Rare Diseases. In: Rare Diseases and Orphan Products: Accelerating Research and Development. National Academies Press (US); 2010 [cited 2024 Oct 2]. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK56184\/"},{"key":"4003_CR2","doi-asserted-by":"crossref","unstructured":"Jackson M, Marks L, May GHW, Wilson JB. The genetic basis of disease. Essays Biochem. 2018 Dec 3 [cited 2024 Oct 2];62(5):643\u2013723. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6279436\/","DOI":"10.1042\/EBC20170053"},{"key":"4003_CR3","doi-asserted-by":"crossref","unstructured":"Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020 Feb [cited 2024 Oct 3];28(2):165\u201373. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6974615\/","DOI":"10.1038\/s41431-019-0508-0"},{"key":"4003_CR4","doi-asserted-by":"crossref","unstructured":"Lee CE, Singleton KS, Wallin M, Faundez V. Rare Genetic Diseases: Nature\u2019s Experiments on Human Development. iScience. 2020 May 1 [cited 2024 Oct 3];23(5):101123. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7229282\/","DOI":"10.1016\/j.isci.2020.101123"},{"key":"4003_CR5","unstructured":"Rare Genetic Diseases. [cited 2024 Oct 3]. Available from: https:\/\/www.genome.gov\/dna-day\/15-ways\/rare-genetic-diseases"},{"key":"4003_CR6","doi-asserted-by":"publisher","unstructured":"Kaufmann P, Pariser AR, Austin C. From scientific discovery to treatments for rare diseases \u2013 the view from the National Center for Advancing Translational Sciences \u2013 Office of Rare Diseases Research. Orphanet J Rare Dis. 2018 Nov 6 [cited 2024 Oct 3];13(1):196. Available from: https:\/\/doi.org\/10.1186\/s13023-018-0936-x","DOI":"10.1186\/s13023-018-0936-x"},{"key":"4003_CR7","doi-asserted-by":"publisher","unstructured":"Sreenu N. Healthcare infrastructure development in rural India: a critical analysis of its status and future challenges. Br J Healthc Manag. 2019 Dec 2 [cited 2024 Oct 3];25(12):1\u20139. Available from: https:\/\/www.magonlinelibrary.com\/doi\/abs\/https:\/\/doi.org\/10.12968\/bjhc.2018.0072","DOI":"10.12968\/bjhc.2018.0072"},{"key":"4003_CR8","doi-asserted-by":"publisher","unstructured":"Bajaj A, Mathew S, Vellarikkal SK, Sivadas A, Bhoyar RC, Joshi K et al. Genomics of rare genetic diseases\u2014experiences from India. Hum Genomics. 2019 Sep 25 [cited 2024 Oct 3];13(1):52. Available from: https:\/\/doi.org\/10.1186\/s40246-019-0215-5","DOI":"10.1186\/s40246-019-0215-5"},{"key":"4003_CR9","unstructured":"Genomics of disease risk. in globally diverse populations | Nature Reviews Genetics. [cited 2024 Oct 3]. Available from: https:\/\/www.nature.com\/articles\/s41576-019-0144-0"},{"key":"4003_CR10","doi-asserted-by":"publisher","unstructured":"Pemmasani SK, Raman R, Mohapatra R, Vidyasagar M, Acharya A. A Review on the Challenges in Indian Genomics Research for Variant Identification and Interpretation. Front Genet. 2020 Jul 22 [cited 2024 Oct 3];11. Available from: https:\/\/www.frontiersin.org\/journals\/genetics\/articles\/https:\/\/doi.org\/10.3389\/fgene.2020.00753\/full","DOI":"10.3389\/fgene.2020.00753\/full"},{"key":"4003_CR11","doi-asserted-by":"publisher","unstructured":"Untapped opportunities for rare disease gene discovery in India. - Girisha \u2013\u20092020 - American Journal of Medical Genetics Part A - Wiley Online Library. [cited 2024 Oct 3]. Available from: https:\/\/onlinelibrary.wiley.com\/doi\/https:\/\/doi.org\/10.1002\/ajmg.a.61866","DOI":"10.1002\/ajmg.a.61866"},{"key":"4003_CR12","doi-asserted-by":"crossref","unstructured":"Sharma R. Birth defects in India: Hidden truth, need for urgent attention. Indian J Hum Genet. 2013 [cited 2024 Oct 4];19(2):125. Available from: http:\/\/www.ijhg.com\/text.asp?2013\/19\/2\/125\/116101","DOI":"10.4103\/0971-6866.116101"},{"key":"4003_CR13","doi-asserted-by":"publisher","unstructured":"Ujagare D, Kar A. Birth defect mortality in India 1990\u20132017: estimates from the Global Burden of Disease data. J Community Genet. 2021 Jan 1 [cited 2024 Oct 4];12(1):81\u201390. Available from: https:\/\/doi.org\/10.1007\/s12687-020-00487-z","DOI":"10.1007\/s12687-020-00487-z"},{"key":"4003_CR14","doi-asserted-by":"publisher","unstructured":"Medical genetics and genomic medicine in India. current status and opportunities ahead - Aggarwal \u2013\u20092015 - Molecular Genetics & Genomic Medicine - Wiley Online Library. [cited 2024 Oct 3]. Available from: https:\/\/onlinelibrary.wiley.com\/doi\/https:\/\/doi.org\/10.1002\/mgg3.150","DOI":"10.1002\/mgg3.150"},{"key":"4003_CR15","doi-asserted-by":"crossref","unstructured":"Phadke SR, Puri RD, Ranganath P. Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario. Indian J Med Res. 2017 Dec [cited 2024 Oct 3];146(6):689\u201399. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5926339\/","DOI":"10.4103\/ijmr.IJMR_1788_15"},{"key":"4003_CR16","doi-asserted-by":"publisher","unstructured":"Yadav RM, Gupta M, Dalvi A, Bargir UA, Hule G, Shabrish S et al. Prenatal Diagnosis for Primary Immunodeficiency Disorders\u2014An Overview of the Indian Scenario. Front Immunol. 2020 Dec 7 [cited 2024 Oct 23];11. Available from: https:\/\/www.frontiersin.org\/journals\/immunology\/articles\/https:\/\/doi.org\/10.3389\/fimmu.2020.612316\/full","DOI":"10.3389\/fimmu.2020.612316\/full"},{"key":"4003_CR17","doi-asserted-by":"publisher","unstructured":"Verma IC, Saxena R, Lall M, Bijarnia S, Sharma R. Genetic counseling and prenatal diagnosis in India \u2014 experience at Sir Ganga Ram Hospital. Indian J Pediatr. 2003 Apr 1 [cited 2024 Oct 4];70(4):293\u20137. Available from: https:\/\/doi.org\/10.1007\/BF02723582","DOI":"10.1007\/BF02723582"},{"key":"4003_CR18","doi-asserted-by":"crossref","unstructured":"Ramesh A, Parvathi VD. Prenatal Diagnosis: A Connotation on Genetic Counseling Being Indispensable. Indian J Public Health. 2020 Mar [cited 2024 Oct 23];64(1):83. Available from: https:\/\/journals.lww.com\/ijph\/fulltext\/2020\/64010\/prenatal_diagnosis__a_connotation_on_genetic.17.aspx","DOI":"10.4103\/ijph.IJPH_116_19"},{"key":"4003_CR19","doi-asserted-by":"crossref","unstructured":"Veyver IBV. den. Recent advances in prenatal genetic screening and testing. F1000Research; 2016 [cited 2024 Oct 4]. Available from: https:\/\/f1000research.com\/articles\/5-2591","DOI":"10.12688\/f1000research.9215.1"},{"key":"4003_CR20","doi-asserted-by":"crossref","unstructured":"Lim KMX, Mahyuddin AP, Gosavi AT, Choolani M. Genetics in prenatal diagnosis. Singapore Med J. 2023 Jan 19 [cited 2024 Oct 23];64(1):27. Available from: https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC9979796\/","DOI":"10.4103\/singaporemedj.SMJ-2021-433"},{"key":"4003_CR21","doi-asserted-by":"publisher","unstructured":"Verma J, Thomas C, Sharma D, Jhingan S, Saxena G, Kohli R et al. S,. Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders. Prenat Diagn. 2015 [cited 2024 Oct 4];35(11):1137\u201347. Available from: https:\/\/onlinelibrary.wiley.com\/doi\/abs\/https:\/\/doi.org\/10.1002\/pd.4663","DOI":"10.1002\/pd.4663"},{"key":"4003_CR22","doi-asserted-by":"crossref","unstructured":"Gupta SG, Singh H, PRENATAL DIAGNOSIS OF NEURAL, TUBE DEFECTS, Med J. Armed Forces India. 2001 Apr 1 [cited 2024 Oct 4];57(2):126\u20138. Available from: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0377123701801301","DOI":"10.1016\/S0377-1237(01)80130-1"},{"key":"4003_CR23","doi-asserted-by":"publisher","unstructured":"Colah RB, Nadkarni AH, Gorakshakar AC, Sawant PM, Mehta PR, Gorivale MS et al. The Changing Trends in Prenatal Diagnosis of Hemoglobinopathies in India: The Quest of a Single Center to Reduce the Burden of Disease over Three Decades. Hemoglobin. 2021 Mar 4 [cited 2024 Oct 4];45(2):112\u20138. Available from: https:\/\/doi.org\/10.1080\/03630269.2021.1908346","DOI":"10.1080\/03630269.2021.1908346"},{"key":"4003_CR24","doi-asserted-by":"publisher","unstructured":"Maternal one-carbon metabolism. MTHFR and TCN2 genotypes and neural tube defects in India - Godbole \u2013\u20092011 - Birth Defects Research Part A: Clinical and Molecular Teratology - Wiley Online Library. [cited 2024 Oct 5]. Available from: https:\/\/onlinelibrary.wiley.com\/doi\/https:\/\/doi.org\/10.1002\/bdra.20841","DOI":"10.1002\/bdra.20841"},{"key":"4003_CR25","doi-asserted-by":"crossref","unstructured":"Impact of Emerging Technologies in. Prenatal Genetic Counseling. [cited 2024 Oct 4]. Available from: https:\/\/perspectivesinmedicine.cshlp.org\/content\/10\/12\/a036517","DOI":"10.1101\/cshperspect.a036517"},{"key":"4003_CR26","doi-asserted-by":"crossref","unstructured":"Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 Feb 11 [cited 2024 Oct 1];16(3):1215. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC334765\/","DOI":"10.1093\/nar\/16.3.1215"},{"key":"4003_CR27","doi-asserted-by":"publisher","unstructured":"Lake BD, Young EP, Winchester BG. Prenatal Diagnosis of Lysosomal Storage Diseases. Brain Pathol. 1998 Jan [cited 2024 Nov 5];8(1):133\u201349. Available from: https:\/\/onlinelibrary.wiley.com\/doi\/https:\/\/doi.org\/10.1111\/j.1750-3639.1998.tb00141.x","DOI":"10.1111\/j.1750-3639.1998.tb00141.x"},{"key":"4003_CR28","doi-asserted-by":"publisher","unstructured":"Gatti R, Lombardo C, Filocamo M, Borrone C, Porro E. Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases. Prenat Diagn. 1985 Sep [cited 2024 Nov 5];5(5):329\u201336. Available from: https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/https:\/\/doi.org\/10.1002\/pd.1970050505","DOI":"10.1002\/pd.1970050505"},{"key":"4003_CR29","unstructured":"Ferrie RM, Schwarz MJ, Robertson NH, Vaudin S, Super M, Malone G et al. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet. 1992 Aug [cited 2024 Oct 1];51(2):251\u201362. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC1682690\/"},{"key":"4003_CR30","doi-asserted-by":"publisher","unstructured":"Vaz FEE, Thakur(Mahadik CB, Banerjee MK, Gangal SG. Distribution of \u03b2-Thalassemia Mutations in the Indian Population Referred to a Diagnostic Center. Hemoglobin. 2000 Jan [cited 2024 Oct 1];24(3):181\u201394. Available from: http:\/\/www.tandfonline.com\/doi\/full\/https:\/\/doi.org\/10.3109\/03630260008997526","DOI":"10.3109\/03630260008997526"},{"issue":"1\u20132","key":"4003_CR31","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1016\/S0009-8981(02)00290-5","volume":"325","author":"A Srinivasan","year":"2002","unstructured":"Srinivasan A, Mukhopadhyay S, Karim Z, Gupta RK, Gupta A, Wadhawan V, et al. Factor VIII gene polymorphisms in North Indian population: a consensus algorithm for carrier analysis of hemophilia A. Clin Chim Acta Int J Clin Chem. 2002;325(1\u20132):177\u201381.","journal-title":"Clin Chim Acta Int J Clin Chem"},{"key":"4003_CR32","doi-asserted-by":"crossref","unstructured":"Untergasser A, Cutcutache I, Koressaar T, Ye J, Faircloth BC, Remm M et al. Primer3\u2014new capabilities and interfaces. Nucleic Acids Res. 2012 Aug [cited 2024 May 19];40(15):e115. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3424584\/","DOI":"10.1093\/nar\/gks596"},{"key":"4003_CR33","doi-asserted-by":"crossref","unstructured":"Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988 Dec 9 [cited 2024 Oct 1];16(23):11141\u201356. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC339001\/","DOI":"10.1093\/nar\/16.23.11141"},{"key":"4003_CR34","doi-asserted-by":"publisher","unstructured":"Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD\/BMD gene deletions by polymerase chain reaction. Hum Genet. 1990 Nov [cited 2024 Oct 1];86(1). Available from: http:\/\/link.springer.com\/https:\/\/doi.org\/10.1007\/BF00205170","DOI":"10.1007\/BF00205170"},{"key":"4003_CR35","doi-asserted-by":"publisher","unstructured":"Tan ASC, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for \u03b1-thalassemia. Blood. 2001 Jul 1 [cited 2024 Oct 4];98(1):250\u20131. Available from: https:\/\/doi.org\/10.1182\/blood.V98.1.250","DOI":"10.1182\/blood.V98.1.250"},{"key":"4003_CR36","doi-asserted-by":"crossref","unstructured":"Sedghi M, Behnam M, Fazel E, Salehi M, Ganji H, Meamar R et al. Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran. Adv Biomed Res. 2014 Jan 27 [cited 2024 Oct 1];3:74. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3950840\/","DOI":"10.4103\/2277-9175.125872"},{"key":"4003_CR37","doi-asserted-by":"publisher","unstructured":"Patil SJ, Banerjee M, Phadke SR, Mittal B. Mutation analysis in Indian children with achondroplasia \u2014 utility of molecular diagnosis. Indian J Pediatr. 2009 Feb 1 [cited 2024 Oct 4];76(2):147\u20139. Available from: https:\/\/doi.org\/10.1007\/s12098-009-0044-y","DOI":"10.1007\/s12098-009-0044-y"},{"issue":"5","key":"4003_CR38","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1016\/j.mcp.2010.07.001","volume":"24","author":"N Passon","year":"2010","unstructured":"Passon N, Dubsky de Wittenau G, Jurman I, Radovic S, Bregant E, Molinis C, et al. Quick MLPA test for quantification of SMN1 and SMN2 copy numbers. Mol Cell Probes. 2010;24(5):310\u20134.","journal-title":"Mol Cell Probes"},{"issue":"11","key":"4003_CR39","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1038\/sj.ejhg.5201465","volume":"13","author":"T Lalic","year":"2005","unstructured":"Lalic T, Vossen RHAM, Coffa J, Schouten JP, Guc-Scekic M, Radivojevic D, et al. Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet. 2005;13(11):1231\u20134.","journal-title":"Eur J Hum Genet"},{"key":"4003_CR40","doi-asserted-by":"publisher","unstructured":"Singh S, Zhang A, Dlouhy S, Bai S. Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR. Front Genet. 2014 Apr 24 [cited 2024 Nov 7];5. Available from: https:\/\/www.frontiersin.org\/journals\/genetics\/articles\/https:\/\/doi.org\/10.3389\/fgene.2014.00094\/full","DOI":"10.3389\/fgene.2014.00094\/full"},{"key":"4003_CR41","doi-asserted-by":"crossref","unstructured":"Warner JP, Barron LH, Brock DJH. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington\u2019s disease chromosomes. Mol Cell Probes. 1993 Jun [cited 2024 Nov 7];7(3):235\u20139. Available from: https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0890850883710340","DOI":"10.1006\/mcpr.1993.1034"},{"issue":"4","key":"4003_CR42","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1016\/S1525-1578(10)60523-5","volume":"6","author":"P Ciotti","year":"2004","unstructured":"Ciotti P, Di Maria E, Bellone E, Ajmar F, Mandich P. Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia. J Mol Diagn JMD. 2004;6(4):285\u20139.","journal-title":"J Mol Diagn JMD"},{"key":"4003_CR43","doi-asserted-by":"crossref","unstructured":"Li H, Durbin R. Fast and accurate short read alignment with Burrows\u2013Wheeler transform. Bioinformatics. 2009 Jul 15 [cited 2024 Oct 1];25(14):1754\u201360. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2705234\/","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"4003_CR44","doi-asserted-by":"crossref","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A et al. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010 Sep [cited 2024 Oct 1];20(9):1297\u2013303. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2928508\/","DOI":"10.1101\/gr.107524.110"},{"key":"4003_CR45","doi-asserted-by":"publisher","unstructured":"Burden of rare genetic disorders in India. twenty-two years\u2019 experience of a tertiary centre | Orphanet Journal of Rare Diseases | Full Text. [cited 2024 Oct 1]. Available from: https:\/\/ojrd.biomedcentral.com\/articles\/https:\/\/doi.org\/10.1186\/s13023-024-03300-z","DOI":"10.1186\/s13023-024-03300-z"},{"key":"4003_CR46","doi-asserted-by":"publisher","unstructured":"Sheth J, Mistri M, Sheth F, Datar C, Godbole K, Kamate M et al. Prenatal Diagnosis of Lysosomal Storage Disorders by Enzymes Study Using Chorionic Villus and Amniotic Fluid. J Fetal Med. 2023 May 8 [cited 2024 Oct 4];01:17\u201324. Available from: https:\/\/www.thieme-connect.de\/products\/ejournals\/abstract\/https:\/\/doi.org\/10.1007\/s40556-014-0001-3","DOI":"10.1007\/s40556-014-0001-3"},{"issue":"3","key":"4003_CR47","first-page":"260","volume":"41","author":"J Sheth","year":"2004","unstructured":"Sheth J, Patel P, Sheth F, Shah R. Lysosomal storage disorders. Indian Pediatr. 2004;41(3):260\u20135.","journal-title":"Indian Pediatr"},{"issue":"1","key":"4003_CR48","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1111\/bjh.17678","volume":"196","author":"D Dexter","year":"2022","unstructured":"Dexter D, McGann PT. Saving lives through early diagnosis: the promise and role of point of care testing for sickle cell disease. Br J Haematol. 2022;196(1):63\u20139.","journal-title":"Br J Haematol"},{"key":"4003_CR49","unstructured":"Thomson AM, McHugh TA, Oron AP, Teply C, Lonberg N, Tella VV et al. Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000\u20132021: a systematic analysis from the Global Burden of Disease Study 2021. Lancet Haematol. 2023 Aug 1 [cited 2024 Oct 4];10(8):e585\u201399. Available from: https:\/\/www.thelancet.com\/journals\/lanhae\/article\/PIIS2352-3026(23)00118-7\/fulltext"},{"key":"4003_CR50","doi-asserted-by":"crossref","unstructured":"Knight-Madden J, Lee K, Elana G, Elenga N, Marcheco-Teruel B, Keshi N et al. Newborn Screening for Sickle Cell Disease in the Caribbean: An Update of the Present Situation and of the Disease Prevalence. Int J Neonatal Screen. 2019 Jan 8 [cited 2024 Oct 4];5(1):5. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7510201\/","DOI":"10.3390\/ijns5010005"},{"key":"4003_CR51","doi-asserted-by":"crossref","unstructured":"Chakravorty S, Williams TN. Sickle cell disease: a neglected chronic disease of increasing global health importance. Arch Dis Child. 2015 Jan [cited 2024 Oct 4];100(1):48\u201353. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4285890\/","DOI":"10.1136\/archdischild-2013-303773"},{"key":"4003_CR52","doi-asserted-by":"crossref","unstructured":"Tshilolo L, Kafando E, Sawadogo M, Cotton F, Vertongen F, Ferster A et al. Neonatal screening and clinical care programmes for sickle cell disorders in sub-Saharan Africa: Lessons from pilot studies. Public Health. 2008 Sep 1 [cited 2024 Oct 4];122(9):933\u201341. Available from: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0033350607003915","DOI":"10.1016\/j.puhe.2007.12.005"},{"issue":"1","key":"4003_CR53","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1002\/ajmg.a.61918","volume":"185","author":"M Nilay","year":"2021","unstructured":"Nilay M, Moirangthem A, Saxena D, Mandal K, Phadke SR. Carrier frequency of SMN1-related spinal muscular atrophy in North Indian population: the need for population based screening program. Am J Med Genet A. 2021;185(1):274\u20137.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"4003_CR54","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1186\/s40246-019-0215-5","volume":"14","author":"S GUaRDIAN Consortium, Sivasubbu","year":"2019","unstructured":"GUaRDIAN Consortium, Sivasubbu S, Scaria V. Genomics of rare genetic diseases-experiences from India. Hum Genomics. 2019;14(1):52.","journal-title":"Hum Genomics"},{"issue":"4","key":"4003_CR55","first-page":"825","volume":"27","author":"EM Kalokairinou","year":"2008","unstructured":"Kalokairinou EM. The experience of beta-thalassaemiaand its prevention in Cyprus. Med Law. 2008;27(4):825\u201341.","journal-title":"Med Law"},{"key":"4003_CR56","doi-asserted-by":"publisher","unstructured":"Kleanthous M. Screening and Prevention of Thalassaemia in Cyprus. Hemoglobin. 2019 Nov 2 [cited 2024 Oct 1];43(6):331\u2013331. Available from: https:\/\/www.tandfonline.com\/doi\/full\/https:\/\/doi.org\/10.1080\/03630269.2020.1719606","DOI":"10.1080\/03630269.2020.1719606"},{"key":"4003_CR57","unstructured":"Loukopoulos D. Haemoglobinopathies in Greece: prevention programme over the past 35 years. Indian J Med Res. 2011 Oct [cited 2024 Oct 4];134(4):572\u20136. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3237258\/"},{"issue":"8216","key":"4003_CR58","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1016\/S0140-6736(81)91682-2","volume":"1","author":"MA Angastiniotis","year":"1981","unstructured":"Angastiniotis MA, Hadjiminas MG. Prevention of thalassaemia in Cyprus. Lancet Lond Engl. 1981;1(8216):369\u201371.","journal-title":"Lancet Lond Engl"},{"issue":"2","key":"4003_CR59","doi-asserted-by":"publisher","first-page":"a011775","DOI":"10.1101\/cshperspect.a011775","volume":"3","author":"A Cao","year":"2013","unstructured":"Cao A, Kan YW. The prevention of thalassemia. Cold Spring Harb Perspect Med. 2013;3(2):a011775.","journal-title":"Cold Spring Harb Perspect Med"},{"key":"4003_CR60","doi-asserted-by":"publisher","unstructured":"Saffi M, Howard N. Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for \u03b2-Thalassaemia in the Middle East: A Scoping Review. Public Health Genomics. 2015 May 29 [cited 2024 Oct 4];18(4):193\u2013203. Available from: https:\/\/doi.org\/10.1159\/000430837","DOI":"10.1159\/000430837"},{"key":"4003_CR61","doi-asserted-by":"crossref","unstructured":"Colah R, Italia K, Gorakshakar A. Burden of thalassemia in India: The road map for control. Pediatr Hematol Oncol J. 2017 Dec 1 [cited 2024 Oct 4];2(4):79\u201384. Available from: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S2468124517300748","DOI":"10.1016\/j.phoj.2017.10.002"},{"key":"4003_CR62","doi-asserted-by":"publisher","unstructured":"Chawla S, Singh R, Rao V. Beta thalassemia prevention in India: evaluation of socio- cultural factors. Mol Cytogenet. 2014 Jan 21 [cited 2024 Oct 4];7(1):P123. Available from: https:\/\/doi.org\/10.1186\/1755-8166-7-S1-P123","DOI":"10.1186\/1755-8166-7-S1-P123"},{"key":"4003_CR63","unstructured":"Sickle cell disease. -related knowledge and perceptions of traditional healers in tribal communities in India: implications on sickle cell disease programme - PMC. [cited 2024 Oct 4]. Available from: https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9681942\/"},{"key":"4003_CR64","doi-asserted-by":"crossref","unstructured":"Bijlwan A, Kumar S. Madhya Pradesh sickle cell mission: An initiative for screening, counseling and treatment of sickle cell disorders among tribal communities. J Fam Med Prim Care. 2022 Jul [cited 2024 Oct 4];11(7):4101. Available from: https:\/\/journals.lww.com\/jfmpc\/fulltext\/2022\/07000\/madhya_pradesh_sickle_cell_mission__an_initiative.127.aspx","DOI":"10.4103\/jfmpc.jfmpc_2407_21"},{"key":"4003_CR65","doi-asserted-by":"publisher","unstructured":"Haemoglobinopathies in India. estimates of blood requirements and treatment costs for the decade 2017\u20132026 | Journal of Community Genetics. [cited 2024 Oct 4]. Available from: https:\/\/link.springer.com\/article\/https:\/\/doi.org\/10.1007\/s12687-019-00410-1","DOI":"10.1007\/s12687-019-00410-1"},{"key":"4003_CR66","unstructured":"Sickle cell anemia from central India. A retrospective analysis | Indian Pediatrics. [cited 2024 Oct 4]. Available from: https:\/\/link.springer.com\/article\/10.1007\/s13312-012-0217-z"},{"key":"4003_CR67","doi-asserted-by":"crossref","unstructured":"Sickle cell disease in India. a scoping review from a health systems perspective to identify an agenda for research and action | BMJ Global Health. [cited 2024 Oct 4]. Available from: https:\/\/gh.bmj.com\/content\/6\/2\/e004322","DOI":"10.1136\/bmjgh-2020-004322"},{"issue":"6","key":"4003_CR68","first-page":"631","volume":"38","author":"I Panigrahi","year":"2001","unstructured":"Panigrahi I, Mittal B. Carrier detection and prenatal diagnosis in duchenne\/becker muscular dystrophy. Indian Pediatr. 2001;38(6):631\u20139.","journal-title":"Indian Pediatr"},{"key":"4003_CR69","doi-asserted-by":"publisher","unstructured":"Chaube P, Singh AK, Choudhury MC. Expansion of India\u2019s national child healthcare programme, Rashtriya Bal Swasthya Karyakram (RBSK), for rare disease management: a health policy perspective. Orphanet J Rare Dis. 2023 Jun 12 [cited 2024 Oct 4];18(1):145. Available from: https:\/\/doi.org\/10.1186\/s13023-023-02761-y","DOI":"10.1186\/s13023-023-02761-y"},{"key":"4003_CR70","doi-asserted-by":"crossref","unstructured":"Muralidharan K, Wilson RB, Ogino S, Nagan N, Curtis C, Schrijver I. Population Carrier Screening for Spinal Muscular Atrophy: A Position Statement of the Association for Molecular Pathology. J Mol Diagn. 2011 Jan 1 [cited 2024 Oct 4];13(1):3\u20136. Available from: https:\/\/www.jmdjournal.org\/article\/S1525-1578(10)00026-7\/fulltext","DOI":"10.1016\/j.jmoldx.2010.11.012"},{"issue":"5","key":"4003_CR71","first-page":"954","volume":"22","author":"NL Vora","year":"2020","unstructured":"Vora NL, Gilmore K, Brandt A, Gustafson C, Strande N, Ramkissoon L, et al. An approach to integrating exome sequencing for fetal structural anomalies into clinical practice. Genet Med Off J Am Coll Med Genet. 2020;22(5):954\u201361.","journal-title":"Genet Med Off J Am Coll Med Genet"},{"issue":"10","key":"4003_CR72","doi-asserted-by":"publisher","first-page":"1290","DOI":"10.1002\/pd.5737","volume":"40","author":"TY Lei","year":"2020","unstructured":"Lei TY, Fu F, Li R, Yu QX, Du K, Zhang WW, et al. Whole-exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography. Prenat Diagn. 2020;40(10):1290\u20139.","journal-title":"Prenat Diagn"},{"issue":"10173","key":"4003_CR73","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1016\/S0140-6736(18)31940-8","volume":"393","author":"J Lord","year":"2019","unstructured":"Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet Lond Engl. 2019;393(10173):747\u201357.","journal-title":"Lancet Lond Engl"},{"issue":"1","key":"4003_CR74","first-page":"4","volume":"29","author":"C Di Resta","year":"2018","unstructured":"Di Resta C, Galbiati S, Carrera P, Ferrari M. Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities. EJIFCC. 2018;29(1):4\u201314.","journal-title":"EJIFCC"},{"key":"4003_CR75","doi-asserted-by":"crossref","unstructured":"Schuler BA, Nelson ET, Koziura M, Cogan JD, Hamid R, Phillips JA. Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases. J Clin Invest. 2022 Apr 1 [cited 2024 Oct 4];132(7). Available from: https:\/\/www.jci.org\/articles\/view\/154942","DOI":"10.1172\/JCI154942"},{"key":"4003_CR76","doi-asserted-by":"crossref","unstructured":"Falardeau F, Camurri MV, Campeau PM. Genomic approaches to diagnose rare bone disorders. Bone. 2017 Sep 1 [cited 2024 Oct 4];102:5\u201314. Available from: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S8756328216302083","DOI":"10.1016\/j.bone.2016.07.020"},{"key":"4003_CR77","doi-asserted-by":"crossref","unstructured":"Brandi ML. Lessons from next-generation sequencing in genetic skeletal disorders. BoneKEy Rep. 2014 May 14 [cited 2024 Oct 4];3. Available from: http:\/\/www.portico.org\/Portico\/article?article=pgk2ph9bnkg","DOI":"10.1038\/bonekey.2014.23"},{"key":"4003_CR78","doi-asserted-by":"publisher","unstructured":"Ryu JK, Cho JY, Choi JS. Prenatal Sonographic Diagnosis of Focal Musculoskeletal Anomalies. Korean J Radiol. 2003 Dec 1 [cited 2024 Oct 4];4(4):243\u201351. Available from: https:\/\/doi.org\/10.3348\/kjr.2003.4.4.243","DOI":"10.3348\/kjr.2003.4.4.243"},{"key":"4003_CR79","doi-asserted-by":"publisher","unstructured":"The utility of ultrasound for the detection of. fetal limb abnormalities \u2013 a 20-year single\u2010center experience - Dicke \u2013\u20092015 - Prenatal Diagnosis - Wiley Online Library. [cited 2024 Oct 4]. Available from: https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/https:\/\/doi.org\/10.1002\/pd.4546","DOI":"10.1002\/pd.4546"},{"key":"4003_CR80","doi-asserted-by":"crossref","unstructured":"Dorn U, Neumann D. Ultrasound for screening developmental dysplasia of the hip: a European perspective. Curr Opin Pediatr. 2005 Feb [cited 2024 Oct 4];17(1):30. Available from: https:\/\/journals.lww.com\/co-pediatrics\/abstract\/2005\/02000\/ultrasound_for_screening_developmental_dysplasia.8.aspx","DOI":"10.1097\/01.mop.0000151554.10176.34"},{"key":"4003_CR81","doi-asserted-by":"publisher","unstructured":"Filges I, Tercanli S, Hall JG. Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management. Am J Med Genet C Semin Med Genet. 2019 [cited 2024 Oct 4];181(3):327\u201336. Available from: https:\/\/onlinelibrary.wiley.com\/doi\/abs\/https:\/\/doi.org\/10.1002\/ajmg.c.31723","DOI":"10.1002\/ajmg.c.31723"},{"key":"4003_CR82","doi-asserted-by":"crossref","unstructured":"Hall JG. Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet. 2014 Aug 1 [cited 2024 Oct 4];57(8):464\u201372. Available from: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1769721214000615","DOI":"10.1016\/j.ejmg.2014.03.008"},{"key":"4003_CR83","doi-asserted-by":"publisher","unstructured":"Fetal arthrogryposis multiplex congenita\/. fetal akinesia deformation sequence (FADS)\u2014Aetiology, diagnosis, and management - Niles \u2013\u20092019 - Prenatal Diagnosis - Wiley Online Library. [cited 2024 Oct 4]. Available from: https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/https:\/\/doi.org\/10.1002\/pd.5505","DOI":"10.1002\/pd.5505"},{"key":"4003_CR84","doi-asserted-by":"crossref","unstructured":"Westemeyer M, Saucier J, Wallace J, Prins SA, Shetty A, Malhotra M et al. Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach. Genet Med. 2020 Aug 1 [cited 2024 Oct 4];22(8):1320\u20138. Available from: https:\/\/www.gimjournal.org\/article\/S1098-3600(21)00689-4\/fulltext","DOI":"10.1038\/s41436-020-0807-4"},{"key":"4003_CR85","doi-asserted-by":"crossref","unstructured":"Sandler S, Alfino L, Saleem M. The importance of preventative medicine in conjunction with modern day genetic studies. Genes Dis. 2018 Jun 1 [cited 2024 Oct 4];5(2):107\u201311. Available from: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S2352304218300242","DOI":"10.1016\/j.gendis.2018.04.002"},{"issue":"1","key":"4003_CR86","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1007\/s40556-014-0001-3","volume":"1","author":"J Sheth","year":"2014","unstructured":"Sheth J, Mistri M, Sheth F, Datar C, Godbole K, Kamate M, et al. Prenatal diagnosis of lysosomal storage disorders by enzymes study using chorionic villus and amniotic fluid. J Fetal Med. 2014;1(1):17\u201324.","journal-title":"J Fetal Med"},{"issue":"11","key":"4003_CR87","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1007\/s13312-011-0130-x","volume":"48","author":"R Prajnya","year":"2011","unstructured":"Prajnya R, Rehder C, Phadke SR, Bali D. Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing? Indian Pediatr. 2011;48(11):901\u20132.","journal-title":"Indian Pediatr"},{"issue":"2\u20133","key":"4003_CR88","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1007\/BF00286589","volume":"66","author":"B Herz","year":"1984","unstructured":"Herz B, Bach G. Arylsulfatase A in pseudodeficiency. Hum Genet. 1984;66(2\u20133):147\u201350.","journal-title":"Hum Genet"},{"key":"4003_CR89","unstructured":"Arora A, UNICEF DATA. 2024 [cited 2024 Dec 12]. Levels and trends in child mortality. Available from: https:\/\/data.unicef.org\/resources\/levels-and-trends-in-child-mortality-2024\/"},{"key":"4003_CR90","unstructured":"Pradhan Mantri Surakshit Matritva Abhiyan - PMSMA. PMSMA. 2016 [cited 2025 Jun 7]. Available from: https:\/\/pmsma.mohfw.gov.in\/"},{"key":"4003_CR91","unstructured":"Final-National Policy for Rare Diseases. -2021.pdf. [cited 2024 Nov 5]. Available from: chrome-extension:\/\/efaidnbmnnnibpcajpcglclefindmkaj\/https:\/\/rarediseases.mohfw.gov.in\/uploads\/Content\/1624967837_Final-NPRD-2021.pdf"},{"issue":"40","key":"4003_CR92","doi-asserted-by":"publisher","first-page":"5110","DOI":"10.2174\/1381612826666201015154932","volume":"26","author":"J Sheth","year":"2020","unstructured":"Sheth J, Nair A. Treatment for lysosomal storage disorders. Curr Pharm Des. 2020;26(40):5110\u20138.","journal-title":"Curr Pharm Des"},{"issue":"2","key":"4003_CR93","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1016\/S0271-5317(98)00029-3","volume":"18","author":"C Prasad","year":"1998","unstructured":"Prasad C, Dalton L, Levy H. Role of diet therapy in management of hereditary metabolic diseases. Nutr Res. 1998;18(2):391\u2013402.","journal-title":"Nutr Res"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-04003-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-025-04003-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-04003-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T04:22:22Z","timestamp":1757478142000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-025-04003-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,2]]},"references-count":93,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["4003"],"URL":"https:\/\/doi.org\/10.1186\/s13023-025-04003-9","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,2]]},"assertion":[{"value":"9 November 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 August 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 September 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures carried out adhered to the ethical standards established by the institutional ethics committee of FRIGE\u2019s Institute of Human Genetics (Registration No. E\/13237) and complied with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was secured from all participants prior to their inclusion in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"None.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"471"}}