Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria (Q28320742)

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17 October 2022

identical twins

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17 October 2022

author name string

D. Chitayat

1

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17 October 2022

K. Meagher-Villemure

2

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17 October 2022

O. A. Mamer

3

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17 October 2022

A. O'Gorman

4

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17 October 2022

D. I. Hoar

5

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K. Silver

6

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C. R. Scriver

7

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full work available at URL

17 October 2022

language of work or name

English

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publication date

July 1992

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https://api.elsevier.com/content/article/PII:S0022347605825491?httpAccept=text/xml

1 reference

10.1016/S0022-3476(05)82549-1

DOI

https://api.crossref.org/works/10.1016/S0022-3476(05)82549-1

https://api.elsevier.com/content/article/PII:S0022347605825491?httpAccept=text/plain

17 October 2022

1 reference

10.1016/S0022-3476(05)82549-1

DOI

https://api.crossref.org/works/10.1016/S0022-3476(05)82549-1

The Journal of Pediatrics

17 October 2022

published in

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volume

121

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issue

1

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page(s)

86-9

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cites work

Lissencephaly-pachygyria associated with congenital cytomegalovirus infection.

1 reference

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Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly

7 January 2021

1 reference

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A rapid gas chromatographic method for the quantitation of volatile fatty acids in urine. Propionic acid excretion in Vitamin B12 deficiency

7 January 2021

1 reference

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Profiles in altered metabolism. II--(omega -- 1)-hydroxyacid excretion in a case of episodic hypoglycemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982549-1

Interference of 3-hydroxyisobutyrate with measurements of ketone body concentration and isotopic enrichment by gas chromatography-mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982549-1

Individual-specific ‘fingerprints’ of human DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982549-1

Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982549-1

Two new sulphur-containing amino acids in man

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982549-1

3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982549-1

A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982549-1

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(05)82549-1

0 references