Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome
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| Published in | Clinical chemistry (Baltimore, Md.) Vol. 68; no. 2; pp. 365 - 367 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Oxford University Press
01.02.2022
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| Subjects | |
| Online Access | Get full text |
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| Author | Hong, Xinying Ahrens-Nicklas, Rebecca Alharbi, Hana Master, Stephen R He, Miao Ritter, Alyssa |
|---|---|
| Author_xml | – sequence: 1 givenname: Hana orcidid: 0000-0002-6139-2816 surname: Alharbi fullname: Alharbi, Hana organization: Department of Pediatrics, University of Tabuk, Tabuk, Saudi Arabia – sequence: 2 givenname: Xinying surname: Hong fullname: Hong, Xinying organization: Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA – sequence: 3 givenname: Alyssa surname: Ritter fullname: Ritter, Alyssa organization: Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA – sequence: 4 givenname: Rebecca surname: Ahrens-Nicklas fullname: Ahrens-Nicklas, Rebecca organization: Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA – sequence: 5 givenname: Stephen R surname: Master fullname: Master, Stephen R organization: Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA – sequence: 6 givenname: Miao surname: He fullname: He, Miao organization: Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/35104856$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1007/s10545-012-9486-x 10.1007/s10545-006-0388-7 10.1016/S0022-3476(05)80289-6 10.1007/s10545-012-9580-0 10.1002/ajmg.a.61383 |
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| Keywords | 3-methylglutaconic acid 3‐methylglutaconic aciduria 3-methylglutarate Barth syndrome cardiomyopathy |
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| References | Donati (2022020200144915900_hvab167-B4) 2006; 29 Cade (2022020200144915900_hvab167-B3) 2013; 36 Baban (2022020200144915900_hvab167-B5) 2020; 182 Wortmann (2022020200144915900_hvab167-B1) 2013; 36 Kelley (2022020200144915900_hvab167-B2) 1991; 119 |
| References_xml | – volume: 36 start-page: 91 year: 2013 ident: 2022020200144915900_hvab167-B3 article-title: Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome publication-title: J Inherit Metab Dis doi: 10.1007/s10545-012-9486-x contributor: fullname: Cade – volume: 29 start-page: 684 year: 2006 ident: 2022020200144915900_hvab167-B4 article-title: Barth syndrome presenting with acute metabolic decompensation in the neonatal period publication-title: J Inherit Metab Dis doi: 10.1007/s10545-006-0388-7 contributor: fullname: Donati – volume: 119 start-page: 738 year: 1991 ident: 2022020200144915900_hvab167-B2 article-title: X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria publication-title: J Pediatr doi: 10.1016/S0022-3476(05)80289-6 contributor: fullname: Kelley – volume: 36 start-page: 923 year: 2013 ident: 2022020200144915900_hvab167-B1 article-title: Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature publication-title: J Inherit Metab Dis doi: 10.1007/s10545-012-9580-0 contributor: fullname: Wortmann – volume: 182 start-page: 64 year: 2020 ident: 2022020200144915900_hvab167-B5 article-title: Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: a potential pitfall for the diagnosis publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.61383 contributor: fullname: Baban |
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| SubjectTerms | Aciduria Age Amino acids Barth Syndrome Blood Cardiomyopathy Creatinine Glutarates Humans Laboratories Medical screening Metabolism Metabolism, Inborn Errors Neutropenia Pediatrics Peptides Plasma Ultrasonic imaging Urine |
| Title | Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome |
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