Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients-Reference-Cited by-同舟云学术

Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients

Published:2022-06-14 Issue:4 Volume:63 Page:379-387
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Healy Lydia¹,O'Shea Meabh¹²,McNulty Jennifer¹²,King Graham¹,Twomey Eilish³,Treacy Eileen²⁴⁵⁶,Crushell Ellen¹²⁵,Hughes Joanne¹²,Knerr Ina¹²⁵,Monavari Ahmad Ardeshir¹²⁵

Affiliation:

1. National Centre of Inherited Metabolic Disorders, Children's Health Ireland at Temple Street Dublin Republic of Ireland

2. European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street and Mater Misericordiae University Hospital Dublin Republic of Ireland

3. Department of Radiology Children's Health Ireland at Temple Street Dublin Republic of Ireland

4. National Adult Centre for Inherited Metabolic Disorders Mater Misericordiae University Hospital Dublin Republic of Ireland

5. University College Dublin Dublin Republic of Ireland

6. University of Dublin Dublin Republic of Ireland

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12302

Reference30 articles.

1. Human Gene Mutation Database (HGMD®): 2003 update

2. Glutaric aciduria type I: Outcome in the Republic of Ireland

3. Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management

4. Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

5. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

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