(Q54349826)

28 May 2018

title

Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency. (English)

1 reference

28 May 2018

1 reference

1

1 reference

28 May 2018

Susan A. Berry

series ordinal

4

1 reference

28 May 2018

author name string

Johnson DD

series ordinal

2

1 reference

28 May 2018

Sweetman L

series ordinal

3

1 reference

28 May 2018

language of work or name

English

0 references

publication date

1 July 1989

1 reference

28 May 2018

The Journal of Pediatrics

published in

1 reference

28 May 2018

volume

115

1 reference

28 May 2018

issue

1

1 reference

28 May 2018

page(s)

110-113

1 reference

28 May 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2889%2980343-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2889%2980343-9

Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2889%2980343-9

Identification of metabolites diagnostic for organic acidurias by simultaneous dual-column capillary gas chromatography

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2889%2980343-9

Activity of biotin-dependent and GABA metabolizing enzymes in chorionic villus samples: potential for 1st trimester prenatal diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2889%2980343-9

Biotinidase deficiency: a novel vitamin recycling defect

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2889%2980343-9

Inheritable biotin-treatable disorders and associated phenomena

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2889%2980343-9

Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2889%2980343-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2889%2980343-9

Carnitine metabolism and inborn errors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2889%2980343-9

10.1016/S0022-3476(89)80343-9

7 January 2021

Identifiers

DOI

1 reference

28 May 2018

1 reference

28 May 2018