Growth charts for individuals with rhizomelic chondrodysplasia punctata.

about

From peroxisomal disorders to common neurodegenerative diseases - the role of ether phospholipids in the nervous system.Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II.

P2860

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P2860

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Item

http://www.wikidata.org/entity/Q53843179

description

2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh

2016年學術文章

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name

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

@en

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

@nl

type

Item

label

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

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Growth charts for individuals with rhizomelic chondrodysplasia punctata.

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Growth charts for individuals with rhizomelic chondrodysplasia punctata.

@en

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

@nl

P1476

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

@en

P2093

Angela L Duker

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

Grant Eldridge

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

Nancy E Braverman

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

Nga H Brereton

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

Tim Niiler

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

P2860

Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

The neurology of rhizomelic chondrodysplasia punctata.

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

United States head circumference growth reference charts: birth to 21 years.

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

P304

108-113

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P31

scholarly article

P356

10.1002/AJMG.A.37961

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English

P433

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

P478

173

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P50

Michael B Bober

P577

2016-09-12T00:00:00Z

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P698

27616591

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Growth charts for individuals with rhizomelic chondrodysplasia punctata.

about

P2860

P2860

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

description

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type

label

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698