(Q60232638)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

title

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

carnitine-acylcarnitine translocase deficiency

12 December 2019

main subject

0 references

author

Rossella Parini

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

Federica Invernizzi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

Barbara Garavaglia

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

Franco Taroni

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

author name string

F Menni

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

D Melotti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

M Rimoldi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

S Salera

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

C Tosetto

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

publication date

1 August 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

12 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

page(s)

733-739

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10472533%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1005548201355

12 December 2019

exact match

0 references

cites work

Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy

1 reference

12 December 2020

Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests.

1 reference

12 December 2020

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

1 reference

12 December 2020

Subcellular distribution of endogenous long chain acylcarnitines during hypoxia in adult canine myocytes

1 reference

12 December 2020

Renal handling of carnitine in secondary carnitine deficiency disorders

1 reference

12 December 2020

Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation

1 reference

12 December 2020

Hepatic ketogenesis and muscle carnitine deficiency

1 reference

12 December 2020

Carnitine-acylcarnitine translocase deficiency--a mild phenotype

1 reference

12 December 2020

A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency

1 reference

12 December 2020

A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype

1 reference

12 December 2020

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

1 reference

12 December 2020

Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency

1 reference

12 December 2020

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.

1 reference

12 December 2020

Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency

1 reference

12 December 2020