(Q60746362)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

author name string

P Briones

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

A Ribes

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

M E Yoldi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

M Rodés

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

C Romero

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

F García-Bragado

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

21 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

237-240

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00711777

21 October 2019

exact match

0 references

cites work

Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation

1 reference

12 December 2020

Renal handling of carnitine in secondary carnitine deficiency disorders

1 reference

12 December 2020

Significance of bound glutarate in the diagnosis of glutaric aciduria type I

1 reference

12 December 2020

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1 reference

12 December 2020

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

1 reference

12 December 2020

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

1 reference

12 December 2020

Transport of carnitine into cells in hereditary carnitine deficiency

1 reference

12 December 2020

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

1 reference

12 December 2020

Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711777

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564257%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference