(Q51604135)

8 April 2018

title

Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1403388

23 September 2022

author name string

J. C. Haworth

1

1 reference

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23 September 2022

F. Demaugre

2

1 reference

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23 September 2022

F. A. Booth

3

1 reference

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23 September 2022

L. A. Dilling

4

1 reference

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23 September 2022

S. P. Moroz

5

1 reference

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23 September 2022

S. S. Seshia

6

1 reference

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23 September 2022

L. E. Seargeant

7

1 reference

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23 September 2022

P. M. Coates

8

1 reference

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23 September 2022

language of work or name

English

0 references

publication date

1 October 1992

1 reference

8 April 2018

The Journal of Pediatrics

published in

1 reference

8 April 2018

volume

121

1 reference

8 April 2018

issue

4

1 reference

8 April 2018

page(s)

553-557

1 reference

8 April 2018

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981143-6

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981143-6

Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981143-6

Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts. Tissue specific isoforms of CPT1?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981143-6

Deficiency of carnitine palmitoyltransferase I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981143-6

Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981143-6

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%2805%2981143-6

Autosomal recessive muscular dystrophy in Manitoba Hutterites*

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981143-6

Muscular dystrophy in Saskatchewan Hutterites.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981143-6

10.1016/S0022-3476(05)81143-6

7 January 2021

Identifiers

DOI

1 reference

8 April 2018

1 reference

8 April 2018