(Q41922531)

14 October 2017

title

Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria (English)

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Amish lethal microcephaly

14 October 2017

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Richard I Kelley

1

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14 October 2017

Donna Robinson

2

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14 October 2017

Erik G Puffenberger

3

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14 October 2017

Kevin A Strauss

4

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14 October 2017

D Holmes Morton

5

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14 October 2017

publication date

1 November 2002

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American Journal of Medical Genetics Part A

14 October 2017

published in

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14 October 2017

volume

112

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14 October 2017

issue

4

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14 October 2017

page(s)

318-326

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The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency

14 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

Urinary excretion of lactate, 2-oxoglutarate, citrate, and glycerol in patients with glycogenosis type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

Mitochondrial metabolite transporters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

Metabolic intermediates in lactic acidosis: compounds, samples and interpretation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10529

21 January 2018

Identifiers

DOI

10.1002/AJMG.10529

1 reference

14 October 2017

1 reference