{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T06:42:50Z","timestamp":1782888170482,"version":"3.54.5"},"reference-count":66,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,4,17]],"date-time":"2019-04-17T00:00:00Z","timestamp":1555459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2019.00336","type":"journal-article","created":{"date-parts":[[2019,4,17]],"date-time":"2019-04-17T04:49:54Z","timestamp":1555476594000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":36,"title":["Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia"],"prefix":"10.3389","volume":"10","author":[{"given":"Lorenzo","family":"Minchiotti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Caridi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Campagnoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Lugani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Galliano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Kragh-Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2019,4,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1007\/978-3-642-53819-3_139","article-title":"Uber einen fall von kompletter analbuminaemie ohne wesentliche klinische krankheitszichen.","volume":"60","author":"Bennhold","year":"1954","journal-title":"Verh. Dtsch. Ges. Inn. Med."},{"key":"B2","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1097\/PAT.0000000000000288","article-title":"Congenital analbuminaemia diagnosed in adulthood in an Australian family.","volume":"47","author":"Berglund","year":"2015","journal-title":"Pathology"},{"key":"B3","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1093\/ndt\/gfy015","article-title":"Treatment and outcome of congenital nephrotic syndrome.","volume":"34","author":"B\u00e9rody","year":"2019","journal-title":"Nephrol. Dial. Transplant."},{"key":"B4","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1042\/BJ20100699","article-title":"NMD: RNA biology meets human genetic medicine.","volume":"430","author":"Bhuvanagiri","year":"2010","journal-title":"Biochem. J."},{"key":"B5","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1016\/j.clinbiochem.2012.05.007","article-title":"Detection of a novel splicing variation causing analbuminemia in a Libyan family.","volume":"45","author":"Bibi","year":"2012","journal-title":"Clin. Biochem."},{"key":"B6","year":"2018"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1256","DOI":"10.1373\/clinchem.2005.048561","article-title":"Congenital analbuminemia attributable to compound heterozygosity for novel variations in the albumin gene.","volume":"51","author":"Campagna","year":"2005","journal-title":"Clin. Chem."},{"key":"B8","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/S0925-4439(01)00084-9","article-title":"A novel splicing variation causes an undescribed type of analbuminemia.","volume":"1586","author":"Campagnoli","year":"2002","journal-title":"Biochim. Biophys. Acta"},{"key":"B9","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.clinbiochem.2005.05.013","article-title":"Analbuminemia in a Swiss family is caused by a C \u2192 T transition at nucleotide 4446 of the albumin gene.","volume":"38","author":"Campagnoli","year":"","journal-title":"Clin. Biochem."},{"key":"B10","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1373\/clinchem.2004.040873","article-title":"Novel nonsense variation causes analbuminemia in a Moroccan family.","volume":"51","author":"Campagnoli","year":"","journal-title":"Clin. Chem."},{"key":"B11","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1016\/j.clinbiochem.2007.11.016","article-title":"Analbuminemia Zonguldak: case report and variational analysis.","volume":"41","author":"Caridi","year":"2008","journal-title":"Clin. Biochem."},{"key":"B12","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1016\/j.cca.2012.01.030","article-title":"A novel two bases deletion in the albumin gene causes analbuminaemia in a young Turkish man.","volume":"413","author":"Caridi","year":"","journal-title":"Clin. Chim. Acta"},{"key":"B13","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1016\/j.ymgme.2011.12.009","article-title":"A novel splicing variation causes analbuminemia in a portuguese boy.","volume":"105","author":"Caridi","year":"","journal-title":"Mol. Genet. Metab."},{"key":"B14","doi-asserted-by":"publisher","first-page":"151","DOI":"10.11613\/BM.2014.017","article-title":"Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene.","volume":"24","author":"Caridi","year":"2014","journal-title":"Biochem. Med."},{"key":"B15","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1111\/eci.12019","article-title":"A novel variation in the albumin gene (c.1A > C) resulting in analbuminemia.","volume":"43","author":"Caridi","year":"2013","journal-title":"Eur. J. Clin. Invest."},{"key":"B16","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1016\/j.pathol.2018.03.015","article-title":"A novel splicing variation in the ALB gene causing analbuminaemia in a portuguese woman.","volume":"50","author":"Caridi","year":"","journal-title":"Pathology"},{"key":"B17","doi-asserted-by":"publisher","first-page":"264","DOI":"10.11613\/BM.2016.031","article-title":"A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family.","volume":"26","author":"Caridi","year":"","journal-title":"Biochem. Med."},{"key":"B18","doi-asserted-by":"publisher","first-page":"1311","DOI":"10.1515\/CCLM.2009.289","article-title":"A novel nonsense variation in the albumin gene (c.1275 C > A) causing analbuminemia in a Tunisian boy.","volume":"47","author":"Caridi","year":"2009","journal-title":"Clin. Chem. Lab. Med."},{"key":"B19","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1016\/j.ejmg.2018.07.001","article-title":"A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.","volume":"62","author":"Caridi","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"B20","doi-asserted-by":"publisher","first-page":"185","DOI":"10.3343\/alm.2018.38.2.185","article-title":"Congenital analbuminemia in unrelated Algerian and Turkish families is caused by the same molecular defect in the albumin gene.","volume":"38","author":"Caridi","year":"","journal-title":"Ann. Lab. Med."},{"key":"B21","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1177\/0004563215618223","article-title":"A novel splicing variation in the albumin gene (c.270+1G > T) causes analbuminaemia in a German infant.","volume":"53","author":"Caridi","year":"","journal-title":"Ann. Clin. Biochem."},{"key":"B22","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1177\/0004563216657841","article-title":"Analbuminaemia: clinical features and associated hypercholesterolaemia.","volume":"53","author":"Crook","year":"2016","journal-title":"Ann. Clin. Biochem."},{"key":"B23","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1016\/j.cca.2010.07.009","article-title":"A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman.","volume":"411","author":"Dagnino","year":"","journal-title":"Clin. Chim. Acta"},{"key":"B24","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1111\/j.1365-2362.2010.02256.x","article-title":"A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient.","volume":"40","author":"Dagnino","year":"","journal-title":"Eur. J. Clin. Invest."},{"key":"B25","doi-asserted-by":"publisher","first-page":"7314","DOI":"10.3390\/ijms12117314","article-title":"Molecular diagnosis of analbuminemia: a new case caused by a nonsense variation in the albumin gene.","volume":"12","author":"Dagnino","year":"2011","journal-title":"Int. J. Mol. Sci."},{"key":"B26","doi-asserted-by":"publisher","first-page":"1482","DOI":"10.1016\/j.clinbiochem.2008.08.082","article-title":"Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification.","volume":"41","author":"Davis","year":"2008","journal-title":"Clin. Biochem."},{"key":"B27","first-page":"85","article-title":"Coronary artery bypass surgery in a patient with analbuminemia.","volume":"38","author":"Demirsoy","year":"2011","journal-title":"Tex. Heart Inst. J."},{"key":"B28","doi-asserted-by":"publisher","first-page":"1549","DOI":"10.1373\/clinchem.2007.089748","article-title":"Analbuminemia produced by a novel splicing variation.","volume":"53","author":"Dolcini","year":"2007","journal-title":"Clin. Chem."},{"key":"B29","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1093\/clinchem\/48.6.844","article-title":"Molecular diagnosis of analbuminemia: a novel variation identified in two Amerindian and two Turkish families.","volume":"48","author":"Galliano","year":"2002","journal-title":"Clin. Chem."},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2016-218093","article-title":"Pregnancy in a patient with congenital analbuminaemia.","volume":"2017","author":"Hu","year":"2017","journal-title":"BMJ Case Rep."},{"key":"B31","doi-asserted-by":"publisher","first-page":"e54","DOI":"10.1016\/j.bjps.2013.09.001","article-title":"Liposuction for lower limb lipodystrophy in congenital analbuminaemia: a case report.","volume":"67","author":"Kandamany","year":"2014","journal-title":"J. Plast. Reconstr. Aesthet. Surg."},{"key":"B32","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1007\/s00431-004-1492-z","article-title":"Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review.","volume":"163","author":"Koot","year":"2004","journal-title":"Eur. J. Pediatr."},{"key":"B33","doi-asserted-by":"publisher","first-page":"5535","DOI":"10.1016\/j.bbagen.2013.03.015","article-title":"Molecular and practical aspects of the enzymatic properties of human serum albumin and of albumin-ligand complexes.","volume":"1830","author":"Kragh-Hansen","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"key":"B34","first-page":"1","article-title":"\u201cHuman serum albumin: a multifunctional protein,\u201d in","author":"Kragh-Hansen","year":"2016","journal-title":"Albumin in Medicine. Pathological and Clinical Applications"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2017.00297","article-title":"Clinical, genetic, and protein structural aspects of familial dysalbuminemic hyperthyroxinemia and hypertriiodothyroninemia.","volume":"8","author":"Kragh-Hansen","year":"2017","journal-title":"Front. Endocrinol."},{"key":"B36","doi-asserted-by":"publisher","first-page":"5405","DOI":"10.1016\/j.bbagen.2013.03.026","article-title":"Human serum albumin isoforms: genetic and molecular aspects and functional consequences.","volume":"1830","author":"Kragh-Hansen","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"key":"B37","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1111\/jphp.12158","article-title":"Pharmacokinetics of drugs in mutant Nagase analbuminemic rats and responses to select diuretics.","volume":"66","author":"Lee","year":"2013","journal-title":"J. Pharm. Pharmacol."},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.1177\/1176934317716089","article-title":"Genome-wide identification and comparative analysis of albumin family in vertebrates.","volume":"13","author":"Li","year":"2017","journal-title":"Evol. Bioform. Online"},{"key":"B39","doi-asserted-by":"crossref","first-page":"2365","DOI":"10.1093\/clinchem\/44.11.2365","article-title":"Influence of methodology on the detection and diagnosis of congenital analbuminemia.","volume":"44","author":"Lyon","year":"1998","journal-title":"Clin. Chem."},{"key":"B40","doi-asserted-by":"publisher","first-page":"1062","DOI":"10.1016\/j.bcp.2012.07.028","article-title":"Nitric oxide-dependent bradycardia in mutant analbuminemic rats.","volume":"84","author":"Mani","year":"2012","journal-title":"Biochem. Pharmacol."},{"key":"B41","first-page":"2","article-title":"The development of the marriage isolate among the Pas Mountain Indians.","volume":"1","author":"Meyer","year":"1984","journal-title":"West. Can. Anthropol."},{"key":"B42","doi-asserted-by":"publisher","first-page":"5494","DOI":"10.1016\/j.bbagen.2013.04.019","article-title":"Congenital analbuminaemia: molecular defects and biochemical and clinical aspects.","volume":"1830","author":"Minchiotti","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"key":"B43","doi-asserted-by":"crossref","first-page":"6747","DOI":"10.1016\/S0021-9258(19)62680-3","article-title":"Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4.","volume":"261","author":"Minghetti","year":"1986","journal-title":"J. Biol. Chem."},{"key":"B44","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1093\/nar\/10.2.459","article-title":"A catalogue of splice junction sequences.","volume":"10","author":"Mount","year":"1982","journal-title":"Nucleic Acids Res."},{"key":"B45","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.gene.2009.08.014","article-title":"Alpha-fetoprotein related gene (ARG): a new member of the albumin gene family that is no longer functional in primates.","volume":"449","author":"Naidu","year":"2010","journal-title":"Gene"},{"key":"B46","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1309\/CGE0XNNU2GKY2X2E","article-title":"Low serum albumin and abnormal body shape in a young canadian first nations woman.","volume":"35","author":"Newstead","year":"2004","journal-title":"Lab. Med."},{"key":"B47","author":"Peters","year":"1996","journal-title":"All About Albumin: Biochemistry, Genetics, and Medical Applications"},{"key":"B48","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1080\/19420862.2015.1008345","article-title":"Albumin-deficient mouse models for studying metabolism of human albumin and pharmacokinetics of albumin-based drugs.","volume":"7","author":"Roopenian","year":"2015","journal-title":"mAbs"},{"key":"B49","doi-asserted-by":"publisher","first-page":"2125","DOI":"10.1073\/pnas.85.7.2125","article-title":"Splicing variation in human hereditary analbuminemia.","volume":"85","author":"Ruffner","year":"1988","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B50","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1016\/j.clinbiochem.2009.12.002","article-title":"Location of the variation site in the first two reported cases of analbuminemia.","volume":"43","author":"Ruhoff","year":"2010","journal-title":"Clin. Biochem."},{"key":"B51","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2014.00682","article-title":"Unraveling the interaction between FcRn and albumin: opportunities for design of albumin-based therapeutics.","volume":"5","author":"Sand","year":"2015","journal-title":"Front. Immunol."},{"key":"B52","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.cca.2006.03.011","article-title":"Biological and clinical aspects of the vitamin D binding protein (Gc-globulin) and its polymorphism.","volume":"372","author":"Speeckaert","year":"2006","journal-title":"Clin. Chim. Acta"},{"key":"B53","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1007\/s12072-015-9665-6","article-title":"Albumin in chronic liver disease: structure, functions and therapeutic implications.","volume":"10","author":"Spinella","year":"2016","journal-title":"Hepatol. Int."},{"key":"B54","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1515\/jpm-2017-0187","article-title":"Understanding fetal factors that contribute to preterm birth: Sj\u00f6gren-Larsson syndrome as a model.","volume":"46","author":"Staps","year":"2018","journal-title":"J. Perinat. Med."},{"key":"B55","doi-asserted-by":"publisher","first-page":"1268","DOI":"10.1038\/ejhg.2016.5","article-title":"Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 variations.","volume":"24","author":"Stephen","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"B56","doi-asserted-by":"publisher","first-page":"466","DOI":"10.12998\/wjcc.v7.i4.466","article-title":"Congenital analbuminemia in a patient affected by hypercholesterolemia: a case report.","volume":"7","author":"Suppressa","year":"2019","journal-title":"World J. Clin. Cases"},{"key":"B57","year":"2018"},{"key":"B58","year":"2018"},{"key":"B59","first-page":"2283","article-title":"Contribution of plasma proteins, albumin and alpha 1-acid glycoprotein, to pharmacokinetics of a multi-targeted receptor tyrosine kinase inhibitor, sunitinib, in analbuminemic rats.","volume":"34","author":"Toyama","year":"2014","journal-title":"Anticancer Res."},{"key":"B60","first-page":"e20","article-title":"Perinatal and childhood morbidity and mortality in congenital analbuminemia.","volume":"17","author":"Toye","year":"2012","journal-title":"Paediatr. Child Health"},{"key":"B61","doi-asserted-by":"publisher","first-page":"4630","DOI":"10.1093\/nar\/gkl535","article-title":"Aberrant 3\u2032 splice sites in human disease genes: variation pattern, nucleotide structure and comparison of computational tools that predict their utilization.","volume":"34","author":"Vorechovsky","year":"2006","journal-title":"Nucleic Acids Res."},{"key":"B62","doi-asserted-by":"publisher","first-page":"5084","DOI":"10.1073\/pnas.0600548103","article-title":"Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a murant \u03b22-microglobulin gene.","volume":"103","author":"Wani","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B63","doi-asserted-by":"crossref","first-page":"2275","DOI":"10.1073\/pnas.91.6.2275","article-title":"A nucleotide insertion and frameshift cause analbuminemia in an Italian family.","volume":"91","author":"Watkins","year":"","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B64","doi-asserted-by":"publisher","first-page":"9417","DOI":"10.1073\/pnas.91.20.9417","article-title":"Analbuminemia: three cases resulting from different point variations in the albumin gene.","volume":"91","author":"Watkins","year":"","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B65","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.1093\/brain\/awr069","article-title":"Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.","volume":"134","author":"Yokoseki","year":"2011","journal-title":"Brain"},{"key":"B66","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1016\/j.dmpk.2015.10.004","article-title":"Pharmacokinetics and pharmacodynamics of mycophenolic acid in Nagase analbuminemic rats: evaluation of protein binding effects using the modeling and simulation approach.","volume":"30","author":"Yoshimura","year":"2015","journal-title":"Drug Metab. Pharmacokinet."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2019.00336\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,16]],"date-time":"2022-09-16T03:30:52Z","timestamp":1663299052000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2019.00336\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,17]]},"references-count":66,"alternative-id":["10.3389\/fgene.2019.00336"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2019.00336","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,4,17]]},"article-number":"336"}}