MovDisordV3, Main, Exploration, bibRecord, 001A11

Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features

Identifieur interne : 001A11 ( Main/Exploration ); précédent : 001A10; suivant : 001A12

Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features

Auteurs : Gurusidheshwar M. Wali [Inde] ; Beat Thony [Suisse] ; Nenad Blau [Suisse]

Source :

Movement Disorders [ 0885-3185 ] ; 2010-05-15.

RBID : ISTEX:2723F30A63A57C1C178891CF1CA3FF955C1FA37C

Descripteurs français

Pascal (Inist)
- Déficit, Fratrie, Indien, Pathologie du système nerveux, Sepiapterin reductase.
Wicri :
- topic : Déficit.

English descriptors

KwdEn :
- Alcohol Oxidoreductases (cerebrospinal fluid), Alcohol Oxidoreductases (deficiency), Brain (pathology), Cerebral Palsy (enzymology), Cerebral Palsy (epidemiology), Cerebral Palsy (genetics), Child, Chromosomes, Human, Pair 2 (genetics), Cognition Disorders (diagnosis), Cognition Disorders (epidemiology), Deficiency, Disorders of Excessive Somnolence (diagnosis), Disorders of Excessive Somnolence (epidemiology), Electroencephalography, Female, Humans, Indian, Infant, Magnetic Resonance Imaging, Male, Metabolism, Inborn Errors (drug therapy), Metabolism, Inborn Errors (epidemiology), Metabolism, Inborn Errors (genetics), Nervous system diseases, Neuropsychological Tests, Sepiapterin reductase, Severity of Illness Index, Sibling, Siblings, Videotape Recording.
MESH :
- chemical , cerebrospinal fluid : Alcohol Oxidoreductases.
- chemical , deficiency : Alcohol Oxidoreductases.
- diagnosis : Cognition Disorders, Disorders of Excessive Somnolence.
- drug therapy : Metabolism, Inborn Errors.
- enzymology : Cerebral Palsy.
- epidemiology : Cerebral Palsy, Cognition Disorders, Disorders of Excessive Somnolence, Metabolism, Inborn Errors.
- genetics : Cerebral Palsy, Chromosomes, Human, Pair 2, Metabolism, Inborn Errors.
- pathology : Brain.
- Child, Electroencephalography, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Neuropsychological Tests, Severity of Illness Index, Siblings, Videotape Recording.

Url:

https://api.istex.fr/document/2723F30A63A57C1C178891CF1CA3FF955C1FA37C/fulltext/pdf

DOI: 10.1002/mds.23032

Affiliations:

Inde, Suisse

Le document en format XML

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<author><name sortKey="Thony, Beat" sort="Thony, Beat" uniqKey="Thony B" first="Beat" last="Thony">Beat Thony</name>
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<author><name sortKey="Blau, Nenad" sort="Blau, Nenad" uniqKey="Blau N" first="Nenad" last="Blau">Nenad Blau</name>
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<term>Brain (pathology)</term>
<term>Cerebral Palsy (enzymology)</term>
<term>Cerebral Palsy (epidemiology)</term>
<term>Cerebral Palsy (genetics)</term>
<term>Child</term>
<term>Chromosomes, Human, Pair 2 (genetics)</term>
<term>Cognition Disorders (diagnosis)</term>
<term>Cognition Disorders (epidemiology)</term>
<term>Deficiency</term>
<term>Disorders of Excessive Somnolence (diagnosis)</term>
<term>Disorders of Excessive Somnolence (epidemiology)</term>
<term>Electroencephalography</term>
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<term>Magnetic Resonance Imaging</term>
<term>Male</term>
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<term>Metabolism, Inborn Errors (epidemiology)</term>
<term>Metabolism, Inborn Errors (genetics)</term>
<term>Nervous system diseases</term>
<term>Neuropsychological Tests</term>
<term>Sepiapterin reductase</term>
<term>Severity of Illness Index</term>
<term>Sibling</term>
<term>Siblings</term>
<term>Videotape Recording</term>
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<term>Disorders of Excessive Somnolence</term>
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<term>Cognition Disorders</term>
<term>Disorders of Excessive Somnolence</term>
<term>Metabolism, Inborn Errors</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cerebral Palsy</term>
<term>Chromosomes, Human, Pair 2</term>
<term>Metabolism, Inborn Errors</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term>
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<term>Electroencephalography</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Neuropsychological Tests</term>
<term>Severity of Illness Index</term>
<term>Siblings</term>
<term>Videotape Recording</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Déficit</term>
<term>Fratrie</term>
<term>Indien</term>
<term>Pathologie du   système nerveux</term>
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Movement Disorders (revue)

Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features

Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features

Source :

Descripteurs français

English descriptors

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.