Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.
- Dill P Division of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Basel, Switzerland. patricia.dill@ukbb.ch
- Wagner M
- Somerville A
- Thöny B
- Blau N
- Weber P
- 2012-02-01
Published in:
- Neurology. - 2012
5-Hydroxytryptophan
Alcohol Oxidoreductases
Behavior
Benserazide
Consanguinity
Developmental Disabilities
Dopamine Agents
Drug Combinations
Eye Movements
Female
Humans
Infant
Levodopa
Movement Disorders
Muscle Hypotonia
Nervous System Diseases
Neurotransmitter Agents
Phenylketonurias
Treatment Outcome
- Language
-
- English
- Open access status
- bronze
- Identifiers
-
- DOI 10.1212/WNL.0b013e3182452849
- PMID 22291068
- Persistent URL
- https://sonar.ch/global/documents/143311
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