(Q47757846)

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

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

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

4

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

author name string

M Huizing

1

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

U Wendel

2

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

W Ruitenbeek

3

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

L IJlst

5

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

P Veenhuizen

6

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

P Savelkoul

7

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

L P van den Heuvel

8

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

J A Smeitink

9

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

R J Wanders

10

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

J M Trijbels

11

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

F Palmieri

12

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

publication date

1 June 1998

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

Journal of Inherited Metabolic Disease

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

21

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

3

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

262-267

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

Mitochondrial metabolite transporters.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9,10‐3H]myristic and [9,10‐3H]palmitic acids by intact cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta + thalassemia: aberrant splicing results from a single point mutation in an intron

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial carrier proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of the nucleotide-binding sites in the ADP/ATP carrier of beef heart mitochondria by photolabeling with 2-azido[alpha-32P]adenosine diphosphate

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ADP/ATP carrier from yeast (AAC-2) is uniquely suited for the assignment of the binding center by photoaffinity labeling

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ARG11 gene of Saccharomyces cerevisiae encodes a mitochondrial integral membrane protein required for arginine biosynthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1005324323401

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686371

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