Biotin responsive limb weakness

Indian Pediatrics

Volumn 44, Issue 3, 2007, Pages 228-230

  Adhisivam, B ^a   Mahto, Deonath ^a   Mahadevan, S ^a  

^a JAWAHARLAL INSTITUTE OF POSTGRADUATE MEDICAL EDUCATION AND RESEARCH   (India)

Author keywords

Basal ganglia; Biotin; Egg; Quadriplegia

Indexed keywords

BIOTIN;

ANAMNESIS; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL EXAMINATION; DIET THERAPY; DISEASE PREDISPOSITION; HUMAN; LABORATORY TEST; LIMB WEAKNESS; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; SCHOOL CHILD; VITAMIN DEFICIENCY;

BASAL GANGLIA DISEASES; BIOTIN; CHILD; EGGS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; QUADRIPLEGIA; VITAMIN B DEFICIENCY;

EID: 33947545587     PISSN: 00196061     EISSN: 00196061     Source Type: Journal    
DOI: None     Document Type: Article

References (4)

1. Ozand PT, Gascon GG, Essa MA, Joshi S, Jishi EA, Bakheet S, et al. Biotin-responsive basal ganglia disease: A novel entity. Brain 1998; 121: 1267-1279.
2. Sweetman L, Surh L, Baker H, Peterson RM, Nyhan WL. Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin. Pediatrics 1981; 68: 553-558.
3. Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 2005; 77: 16-26.
4. Roubertie A, Rivier F, Humbertclaude V, Tuffery S, Cavalier L, Cheminal R, et al. The varied etiologies of childhood-onset dystonia. Rev Neurol (Paris) 2002; 158: 413-424.