Pontocerebellar Hypoplasia Type 1

Pediatric Neurology

Volumn 39, Issue 4, 2008, Pages 286-288

  Szabó, Nóra ^a   Szabó, Hajnalka ^a   Hortobágyi, Tibor ^a,b   Túri, Sándor ^a   Sztriha, László ^a  

^a UNIVERSITY OF SZEGED   (Hungary)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; AMMONIA; CREATINE KINASE; ELECTROLYTE; LACTIC ACID; TRANSFERRIN; URATE;

AMMONIA BLOOD LEVEL; ARTICLE; BRAIN ATROPHY; BRAIN STEM; CASE REPORT; CEREBELLUM; CHROMOSOME ANALYSIS; CLINICAL EVALUATION; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; ELECTROENCEPHALOGRAPHY; ELECTROLYTE BLOOD LEVEL; FACE DYSMORPHIA; FEMALE; GAS CHROMATOGRAPHY; HUMAN; HUMAN TISSUE; ISOELECTRIC FOCUSING; KIDNEY FUNCTION TEST; LACTATE BLOOD LEVEL; LIVER FUNCTION TEST; MOTOR NEURON DISEASE; MUSCLE BIOPSY; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; PONTOCEREBELLAR HYPOPLASIA TYPE 1; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; TOXOPLASMOSIS; URIC ACID BLOOD LEVEL; X RAY;

CENTRAL NERVOUS SYSTEM DISEASES; CEREBELLUM; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MOTOR NEURON DISEASE; MUSCLE HYPOTONIA; PONS;

EID: 52049096409     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2008.06.017     Document Type: Article

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