(Q52098193)

22 April 2018

http://europepmc.org/abstract/MED/7128647

title

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. (English)

1 reference

22 April 2018

http://europepmc.org/abstract/MED/7128647

main subject

3-methylcrotonyl-CoA carboxylase deficiency

0 references

author name string

F A Beemer

1

1 reference

22 April 2018

http://europepmc.org/abstract/MED/7128647

K Bartlett

2

1 reference

22 April 2018

http://europepmc.org/abstract/MED/7128647

M Duran

3

1 reference

22 April 2018

http://europepmc.org/abstract/MED/7128647

H K Ghneim

4

1 reference

22 April 2018

http://europepmc.org/abstract/MED/7128647

S K Wadman

5

1 reference

22 April 2018

http://europepmc.org/abstract/MED/7128647

L Bruinvis

6

1 reference

22 April 2018

http://europepmc.org/abstract/MED/7128647

D Ketting

7

1 reference

22 April 2018

http://europepmc.org/abstract/MED/7128647

publication date

1 July 1982

1 reference

22 April 2018

http://europepmc.org/abstract/MED/7128647

published in

European Journal of Pediatrics

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22 April 2018

http://europepmc.org/abstract/MED/7128647

volume

138

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22 April 2018

http://europepmc.org/abstract/MED/7128647

issue

4

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22 April 2018

http://europepmc.org/abstract/MED/7128647

page(s)

351-354

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22 April 2018

http://europepmc.org/abstract/MED/7128647

cites work

Gas chromatography of urinary N-phenylacetylglutamine

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

https://pubmed.ncbi.nlm.nih.gov/7128647

1 reference

12 December 2020

The specificity of glycine-N-acylase and acylglycine excretion in the organicacidaemias

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

Inherited disorders of 3-methylcrotonyl CoA carboxylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

[Multiple biotin-dependent carboxylase deficiencies (author's transl)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

An improved assay of erythrocyte and leukocyte galactose-1-phosphate uridyl transferase: stabilization of the enzyme by a thiol protective reagent.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

Studies on cultured fibroblasts from patients with defects of biotin‐dependent carboxylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

Organic aciduria. Treatable cause of floppy infant syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

Diagnosis of organic acidemias by gas chromatography--mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

The Encephalopathic Action of Five-carbon-atom Fatty Acids in the Rabbit

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

The regulation of fatty acid biosynthesis in rat hepatomas.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/7128647

12 December 2020

Identifiers

DOI

10.1007/BF00442517

1 reference

22 April 2018

http://europepmc.org/abstract/MED/7128647

1 reference

22 April 2018