Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia-Reference-Cited by-同舟云学术

Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia

Published:2021-09-26 Issue:1 Volume:62 Page:44-48
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Leuger Laurent¹,Dieu Xavier¹,Chao de la Barca Juan Manuel¹,Moriconi Mikael²,Halley Guillaume²,Donin de Rosière Xavier³,Reynier Pascal¹^ORCID,Mirebeau‐Prunier Delphine¹,Homedan Chadi¹

Affiliation:

1. Laboratoire de Biochimie et biologie moléculaire, Centre Hospitalier Universitaire d'Angers Angers Cedex 9 France

2. Service de Réanimation Polyvalente et Unité de soins continus, Centre Hospitalier de Cornouaille Quimper Cedex France

3. Service de Médecine Polyvalente Ouest, Centre Hospitalier de Cornouaille Concarneau France

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12251

Reference25 articles.

1. A DISEASE, PROBABLY HEREDITARY, CHARACTERISED BY SEVERE MENTAL DEFICIENCY AND A CONSTANT GROSS ABNORMALITY OF AMINOACID METABOLISM

2. Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry

3. Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.

4. Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.

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