Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies-Reference-Cited by-同舟云学术

Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies

Published:2019-07-09 Issue:5 Volume:42 Page:745-761
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Haijes Hanneke A.¹²^ORCID,Hasselt Peter M.²,Jans Judith J. M.¹,Verhoeven‐Duif Nanda M.¹

Affiliation:

1. Section Metabolic Diagnostics, Department of Biomedical Genetics, Centre for Molecular MedicineUniversity Medical Centre Utrecht, Utrecht University Utrecht The Netherlands

2. Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's HospitalUniversity Medical Centre Utrecht, Utrecht University Utrecht The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12128

Reference128 articles.

1. Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism I;Childs B;Pediatrics,1961

2. The Natural History of the Inherited Methylmalonic Acidemias

3. Idiopathic hyperglycinemia: a new disorder of amino acid metabolism. II. The concentrations of other amino acids in the plasma and their modification by the administration of leucine;Nyhan WL;Pediatrics,1961

4. L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia.

5. Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications;Haijes HA;J Inherit Metab Dis,2019

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