Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome-Reference-Cited by-同舟云学术

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Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome

Published:2008-07 Issue:3 Volume:94 Page:287-291
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Boneh Avihu,Beauchamp Miriam,Humphrey Maureen,Watkins Jemma,Peters Heidi,Yaplito-Lee Joy

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference22 articles.

1. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study;Wilcken;Lancet,2007

2. Neonatal screening for glutaryl-CoA dehydrogenase deficiency;Lindner;J. Inherit. Metab. Dis.,2004

3. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency;Kolker;Pediatr. Res.,2006

4. The aetiology of neurological complications of organic acidaemias—a role for the blood-brain barrier;Kolker;J. Inherit. Metab. Dis.,2006

5. Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency;Sauer;J. Neurochem.,2006

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1. Exploring genotype–phenotype correlations in glutaric aciduria type 1;Journal of Inherited Metabolic Disease;2023-04-16

2. How guideline development has informed clinical research for organic acidurias (et vice versa);Journal of Inherited Metabolic Disease;2023-01-16

3. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision;Journal of Inherited Metabolic Disease;2022-11-17

4. Glutaric Acidemia Type I: Diagnosis and Management;Nutrition Management of Inherited Metabolic Diseases;2022

5. Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients;Genes;2021-08-27

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