Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

about

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

P2860

Q36062909-57624A1B-9000-4289-B83E-A8287A1E06C5 Q37604514-20733F19-E494-4D6C-A12C-5FA68A3D627C

P2860

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

Item

http://www.wikidata.org/entity/Q35735597

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

Periventricular Calcification, ...... he Clinical Spectrum of RMND1?

@ast

Periventricular Calcification, ...... he Clinical Spectrum of RMND1?

@en

type

Item

label

Periventricular Calcification, ...... he Clinical Spectrum of RMND1?

@ast

Periventricular Calcification, ...... he Clinical Spectrum of RMND1?

@en

prefLabel

Periventricular Calcification, ...... he Clinical Spectrum of RMND1?

@ast

Periventricular Calcification, ...... he Clinical Spectrum of RMND1?

@en

P1476

Periventricular Calcification, ...... he Clinical Spectrum of RMND1?

@en

P2093

Eilish Twomey

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

Ellen Crushell

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

Jillian P Casey

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

Kyle Thompson

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

Langping He

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

Mary D King

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

Robert W Taylor

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

Roy K Philip

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

Sally Ann Lynch

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

P2860

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

Biochemical assays of respiratory chain complex activity.

Monogenic mitochondrial disorders.

Mitochondrial dysfunction: a neglected component of skin diseases.

Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid.

Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption.

Fatal combined defects in mitochondrial multienzyme complexes in two siblings.

P304

13-19

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

P31

scholarly article

case report

P356

10.1007/8904_2015_479

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

P478

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

P50

Sean Ennis

P577

2015-08-04T00:00:00Z

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

P698

26238252

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

P932

5580737

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

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

about

P2860

P2860

Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P932