(Q48750034)

15 February 2018

title

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. (English)

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15 February 2018

author name string

Mike Gerards

series ordinal

1

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15 February 2018

René de Coo

series ordinal

2

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15 February 2018

Hubert Smeets

series ordinal

3

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15 February 2018

language of work or name

English

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publication date

30 May 2014

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15 February 2018

published in

Brain

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15 February 2018

volume

137

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15 February 2018

issue

Pt 9

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15 February 2018

page(s)

e296

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15 February 2018

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU129

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU129

Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU129

Treatable Leigh-like encephalopathy presenting in adolescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU129

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU129

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU129

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU129

Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU129

Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU129

Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU129

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU129

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU129

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWU129

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15 February 2018

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15 February 2018