Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death-Reference-Cited by-同舟云学术

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Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death

Published:2011-11 Issue:3 Volume:104 Page:414-416
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Yahyaoui Raquel,Espinosa María Gracia,Gómez Celia,Dayaldasani Anita,Rueda Inmaculada,Roldán Ana,Ugarte Magdalena,Lastra Gonzalo,Pérez Vidal

Publisher

Elsevier BV

Subject

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

Reference30 articles.

1. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects;Bonnefont;Mol. Aspects Med.,2004

2. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency;Thuillier;Hum. Mutat.,2003

3. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency;Isackson;Mol. Gen. Metab.,2008

4. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II;Hug;New Eng. J. Med.,1991

5. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical and molecular review;Sigauke;Lab. Invest.,2003

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1. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;Fluids and Barriers of the CNS;2024-03-04

2. Speech and Language Delays Associated With New-Onset Seizures Revealing Dandy-Walker Variant;Cureus;2024-01-23

3. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;2023-12-04

4. Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis;American Journal of Neuroradiology;2023-08-17

5. Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate;Metabolites;2022-11-19

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