Glutaric acidemia Type 1: Outcomes before and after expanded newborn screening-Reference-Cited by-同舟云学术

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Glutaric acidemia Type 1: Outcomes before and after expanded newborn screening

Published:2012-08 Issue:4 Volume:106 Page:430-438
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Viau Krista,Ernst Sharon L.,Vanzo Rena J.,Botto Lorenzo D.,Pasquali Marzia,Longo Nicola

Funder

Centers for Disease Control and Prevention

Publisher

Elsevier BV

Subject

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

Reference34 articles.

1. Diagnosis and management of glutaric aciduria type I—revised recommendations;Kolker;J. Inherit. Metab. Dis.,2011

2. Type I glutaric aciduria, part 1: natural history of 77 patients;Strauss;Am. J. Med. Genet. C Semin. Med. Genet.,2003

3. Glutaric aciduria type I: outcome following detection by newborn screening;Bijarnia;J. Inherit. Metab. Dis.,2008

4. Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort;Funk;Brain,2005

5. The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I;Tortorelli;Mol. Genet. Metab.,2005

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1. Evaluación de los primeros 5 años de cribado neonatal de aciduria glutárica tipo 1 en Asturias;Anales de Pediatría;2024-05

2. Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias;Anales de Pediatría (English Edition);2024-05

3. Newborn screening in France: news and perspectives;Annales de Biologie Clinique;2024-02

4. Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey;Molecular Genetics and Metabolism Reports;2023-09

5. Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China;Orphanet Journal of Rare Diseases;2023-07-26

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