(Q52220897)

27 April 2018

title

Isolated glycerol kinase deficiency in a neonate. (English)

1 reference

27 April 2018

glycerol kinase deficiency

main subject

1 reference

1 reference

B Lewis

1

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27 April 2018

M Harbord

2

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27 April 2018

R Keenan

3

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27 April 2018

W Carey

4

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27 April 2018

R Harrison

5

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27 April 2018

E Robertson

6

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27 April 2018

publication date

1 January 1994

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27 April 2018

Journal of Child Neurology

published in

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27 April 2018

volume

9

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27 April 2018

issue

1

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27 April 2018

page(s)

70-73

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27 April 2018

Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients

cites work

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900118

Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900118

Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900118

Familial hyperglycerolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900118

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900118

Expression of the murine Duchenne muscular dystrophy gene in muscle and brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900118

Brain morphology in Duchenne muscular dystrophy: a Golgi study

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900118

Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900118

Human glycerol kinase deficiency: An inborn error of compartmental metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389400900118

10.1177/088307389400900118

21 January 2018

Identifiers

DOI

1 reference

27 April 2018

1 reference

27 April 2018