(Q40473100)

20 September 2017

1 reference

title

Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. (English)

1 reference

20 September 2017

1

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20 September 2017

Hoppel CL

2

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20 September 2017

De Girolami U

series ordinal

3

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20 September 2017

Kozakewich HP

series ordinal

4

1 reference

20 September 2017

Korson MS

series ordinal

5

1 reference

20 September 2017

language of work or name

English

0 references

publication date

1 September 1995

1 reference

The Journal of Pediatrics

20 September 2017

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20 September 2017

127

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20 September 2017

414-420

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20 September 2017

3

1 reference

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

20 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970073-0

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970073-0

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970073-0

Quantification of carnitine and specific acylcarnitines by high-performance liquid chromatography: application to normal human urine and urine from patients with methylmalonic aciduria, isovaleric acidemia or medium-chain acyl-CoA dehydrogenase defi

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970073-0

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970073-0

Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970073-0

The mechanism of arrest of neuronal migration in the Zellweger malformation: An hypothesis based upon cytoarchitectonic analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970073-0

The peroxisome: nervous system role of a previously underrated organelle. The 1987 Robert Wartenberg lecture

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970073-0

10.1016/S0022-3476(95)70073-0

7 January 2021

Identifiers

DOI

1 reference

20 September 2017

1 reference