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

about

Leigh syndrome: the genetic heterogeneity story continues.

P2860

Q48475711-6015E7B1-7445-4A33-9531-018F55DDC057

P2860

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

Item

http://www.wikidata.org/entity/Q48750034

description

2014 nî lūn-bûn

@nan

2014年の論文

@ja

2014年学术文章

@wuu

2014年学术文章

@zh

2014年学术文章

@zh-cn

2014年学术文章

@zh-hans

2014年学术文章

@zh-my

2014年学术文章

@zh-sg

2014年學術文章

@yue

2014年學術文章

@zh-hant

name

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

@en

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

@nl

type

Item

label

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

@en

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

@nl

prefLabel

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

@en

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

@nl

P1476

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

@en

P2093

Hubert Smeets

http://www.w3.org/2001/XMLSchema#string

Mike Gerards

http://www.w3.org/2001/XMLSchema#string

René de Coo

http://www.w3.org/2001/XMLSchema#string

P2860

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

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

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

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

Treatable Leigh-like encephalopathy presenting in adolescence.

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

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

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

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

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

P304

e296

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1093/BRAIN/AWU129

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

Pt 9

http://www.w3.org/2001/XMLSchema#string

P478

137

http://www.w3.org/2001/XMLSchema#string

P577

2014-05-30T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

24878501

http://www.w3.org/2001/XMLSchema#string

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

about

P2860

P2860

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

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698