(Q45183668)

English

Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases

scientific article published in November 1987

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases (English)

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

author name string

A Kohlschütter

1

1 reference

Europe PubMed Central

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10 December 2017

H P Willig

2

1 reference

Europe PubMed Central

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10 December 2017

D Schlamp

3

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

K Kruse

4

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

E R McCabe

5

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

H J Schäfer

6

1 reference

Europe PubMed Central

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10 December 2017

G Beckenkamp

7

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

R Rohkamm

8

1 reference

Europe PubMed Central

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10 December 2017

publication date

1 November 1987

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

European Journal of Pediatrics

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Europe PubMed Central

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10 December 2017

146

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10 December 2017

6

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10 December 2017

575-581

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10 December 2017

Cytomegalic adrenal hypoplasia with pituitary cytomegaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative determination of serum triglycerides by the use of enzymes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital adrenal hypoplasia. Report of a case with extreme adrenal hypoplasia and neurohypophyseal aplasia, drawing attention to certain aspects of etiology and classification.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial congenital adrenal hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hyperglycerolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudo-Hypertriglyceridämie bei Glycerokinase-Mangel

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human glycerol kinase deficiency: An inborn error of compartmental metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of glycerol kinase (EC 2.7.1.30)

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenal Cortical Hypoplasia in Siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial congenital adrenal hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenal dysfunction in glycerol kinase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital primary adrenal hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Liver glycerokinase deficiency in man with hyperglycerolaemia and hypertriglyceridaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brown fat and adrenal pheochromocytoma: association or coincidence?

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/2828063

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02467357

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

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