(Q52094626)

English

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs

scientific article published on October 1, 1983

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scholarly article

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Europe PubMed Central

22 April 2018

http://europepmc.org/abstract/MED/6315281

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs (English)

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Severe mental retardation

1 reference

based on heuristic

inferred from title

glycerol kinase deficiency

1 reference

based on heuristic

inferred from title

progressive muscular dystrophy

1 reference

based on heuristic

inferred from title

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10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Fons John Marie Gabreëls

8

object named as

Gabreëls FJ

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Europe PubMed Central

22 April 2018

http://europepmc.org/abstract/MED/6315281

author name string

W. O. Renier

1

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F. A. Nabben

2

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T. W. Hustinx

3

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J. H. Veerkamp

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B. J. Otten

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H. J. Ter Laak

6

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B. G. Ter Haar

7

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F. J. Gabreëls

8

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language of work or name

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publication date

1 October 1983

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full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1983.tb00078.x

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10.1111/J.1399-0004.1983.TB00078.X

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http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1983.tb00078.x/fullpdf

1 reference

10.1111/J.1399-0004.1983.TB00078.X

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25 September 2023

Clinical Genetics

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24

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4

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243-251

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http://europepmc.org/abstract/MED/6315281

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

1

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

X-linked recessively inherited non-specific mental retardation. Report of a large family

2

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

A study of possible heterogeneity in Duchenne muscular dystrophy

4

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

5

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Congenital adrenal hypoplasia and hypogonadotropic hypogonadism

6

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

7

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure

8

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Congenital X-linked adrenal hypoplasia

9

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Congenital muscular dystrophy as a disease of the central nervous system

10

1 reference

10.1111/J.1399-0004.1983.TB00078.X

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25 September 2023

Threshold adrenocortical sensitivity in man and its possible application to corticotrophin bioassay

11

1 reference

10.1111/J.1399-0004.1983.TB00078.X

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25 September 2023

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

13

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Familial congenital absence of adrenal glands; evaluation of glucocorticoid, mineralocorticoid, and estrogen metabolism in the perinatal period

16

1 reference

10.1111/J.1399-0004.1983.TB00078.X

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25 September 2023

Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia

17

1 reference

10.1111/J.1399-0004.1983.TB00078.X

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25 September 2023

Mental deficiency associated with muscular dystrophy. A neuropathological study.

18

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Prometaphase banding of human chromosomes with basic fuchsin.

20

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Familial congenital adrenal hypoplasia

22

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia

23

1 reference

10.1111/J.1399-0004.1983.TB00078.X

https://api.crossref.org/works/10.1111/J.1399-0004.1983.TB00078.X

25 September 2023

Identifiers

10.1111/J.1399-0004.1983.TB00078.X

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6315281

25 September 2023

1 reference

Europe PubMed Central

22 April 2018

http://europepmc.org/abstract/MED/6315281

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