Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis (Q37878680)

24 August 2017

title

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis (English)

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carnitine-acylcarnitine translocase deficiency

24 August 2017

main subject

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Guo-li Wang

1

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Jing Wang

2

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Ganka Douglas

3

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Marsha Browning

4

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Sihoun Hahn

5

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Jaya Ganesh

6

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Sarah Cox

7

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Kirk Aleck

8

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Eric S Schmitt

9

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Wei Zhang

10

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Lee-Jun C Wong

11

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publication date

7 May 2011

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Molecular Genetics and Metabolism

24 August 2017

published in

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24 August 2017

volume

103

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issue

4

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page(s)

349-357

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Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport

24 August 2017

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Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts

7 January 2021

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Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency

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Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family

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7 January 2021

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Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient

7 January 2021

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Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency

7 January 2021

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Aberrant mRNA Splicing Associated with Coding Region Mutations in Children with Carnitine-Acylcarnitine Translocase Deficiency

7 January 2021

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A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient

7 January 2021

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A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

7 January 2021

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Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient

7 January 2021

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7 January 2021

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7 January 2021

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10.1016/J.YMGME.2011.05.001

7 January 2021

Identifiers

DOI

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24 August 2017

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