{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T10:45:35Z","timestamp":1768646735416,"version":"3.49.0"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1993,6,9]],"date-time":"1993-06-09T00:00:00Z","timestamp":739584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1994,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We screened 2560 referred cases for inborn errors of amino acid metabolism by chemical tests and thin\u2010layer chromatography of urine\/plasma. In 62(2.4%) cases, eleven inherited Mendelian disorders of amino acids were identified. The four commonest disorders were homocystinuria, alcaptonuria, maple syrup urine disease and nonketotic hyperglycinaemia. Ornithinaemia was detected in two cases (0.08%), and phenylketonuria and cystinuria in two cases each (0.08%). Generalized hyperaminoacidurias were found in 90 (3.52%) subjects. The frequency pattern of the various amino acid disorders in North India was found to be remarkably different from that observed in the West.<\/jats:p>","DOI":"10.1007\/bf00711623","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T12:22:34Z","timestamp":1101817354000},"page":"230-233","source":"Crossref","is-referenced-by-count":26,"title":["Inborn errors of amino acid metabolism in North India"],"prefix":"10.1002","volume":"17","author":[{"given":"Manjeet","family":"Kaur","sequence":"first","affiliation":[{"name":"Genetic Unit, Department of Paediatrics All India Institute of Medical Sciences  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ganesh","family":"Das Prasad","sequence":"additional","affiliation":[{"name":"Genetic Unit, Department of Paediatrics All India Institute of Medical Sciences  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ishwar Chander","family":"Verma","sequence":"additional","affiliation":[{"name":"Genetic Unit, Department of Paediatrics All India Institute of Medical Sciences  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1993,6,9]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"384","article-title":"Clinical, biochemical and cytogenetic studies in mental retardation","volume":"79","author":"Ambani LM","year":"1984","journal-title":"Indian J Med Res"},{"key":"e_1_2_1_3_1","first-page":"361","article-title":"Genetic consequences of inbreeding in a large human population","volume":"6","author":"Appaji Rao N","year":"1991","journal-title":"Proc Indian Natl Sci Acad"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1973.tb08129.x"},{"key":"e_1_2_1_5_1","first-page":"209","article-title":"Phenylketonuria among mentally retarded in India","volume":"2","author":"Centerwall WR","year":"1986","journal-title":"Lancet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.6.362"},{"key":"e_1_2_1_7_1","first-page":"2539","volume-title":"The Metabolic Basis of Inherited Disease","author":"DuBose TD","year":"1989"},{"key":"e_1_2_1_8_1","first-page":"161","article-title":"Collaborating Centres and Central Co\u2010ordinating Unit. Multicentric study on genetic causes of mental retardation in India","volume":"94","author":"ICMR","year":"1991","journal-title":"Indian J Med Res"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-67488-4_34"},{"key":"e_1_2_1_10_1","first-page":"241","article-title":"Metabolic anomalies detected during a systematic biochemical screening of mentally retarded cases","volume":"65","author":"Rama Rao BSS","year":"1977","journal-title":"Indian J Med Res"},{"key":"e_1_2_1_11_1","first-page":"93","volume-title":"Medical Genetics in India, vol. 1","author":"Reddi OS","year":"1978"},{"key":"e_1_2_1_12_1","first-page":"11","volume-title":"Laboratory Techniques for the Detection of Hereditary Metabolic Disorders","author":"Shih VE","year":"1982"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711623","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:14:46Z","timestamp":1694747686000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00711623"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,6,9]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1994,3]]}},"alternative-id":["10.1007\/BF00711623"],"URL":"https:\/\/doi.org\/10.1007\/bf00711623","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,6,9]]}}}