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[Biotidinase deficiency: a disease with neurologic and cutaneous expression susceptible to biotin].
Pediatrie 1989; 44(5):383-6P

Abstract

The authors report 2 familial cases of biotin deficiency. The first neurological signs appeared at the age of 2 years in a boy. The diagnosis was established in his sister in the neonatal period. A review of 41 published cases summarizes the neurologic signs (seizures, ataxia, hypotonia and later, developmental delay and deafness) and the cutaneous signs (rash, alopecia). An early treatment with biotin cures or prevents the clinical signs of the disease in most cases.

Authors+Show Affiliations

Unité d'étude des maladies métaboliques, hôpital Debrousse, Lyon, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

2812965

Citation

de Parscau, L, et al. "[Biotidinase Deficiency: a Disease With Neurologic and Cutaneous Expression Susceptible to Biotin]." Pediatrie, vol. 44, no. 5, 1989, pp. 383-6.
de Parscau L, Beaufrère B, Vianey-Liaud C, et al. [Biotidinase deficiency: a disease with neurologic and cutaneous expression susceptible to biotin]. Pediatrie. 1989;44(5):383-6.
de Parscau, L., Beaufrère, B., Vianey-Liaud, C., Rolland, M. O., Langue, J., Divry, P., & Guibaud, P. (1989). [Biotidinase deficiency: a disease with neurologic and cutaneous expression susceptible to biotin]. Pediatrie, 44(5), pp. 383-6.
de Parscau L, et al. [Biotidinase Deficiency: a Disease With Neurologic and Cutaneous Expression Susceptible to Biotin]. Pediatrie. 1989;44(5):383-6. PubMed PMID: 2812965.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Biotidinase deficiency: a disease with neurologic and cutaneous expression susceptible to biotin]. AU - de Parscau,L, AU - Beaufrère,B, AU - Vianey-Liaud,C, AU - Rolland,M O, AU - Langue,J, AU - Divry,P, AU - Guibaud,P, PY - 1989/1/1/pubmed PY - 2000/5/5/medline PY - 1989/1/1/entrez SP - 383 EP - 6 JF - Pediatrie JO - Pediatrie VL - 44 IS - 5 N2 - The authors report 2 familial cases of biotin deficiency. The first neurological signs appeared at the age of 2 years in a boy. The diagnosis was established in his sister in the neonatal period. A review of 41 published cases summarizes the neurologic signs (seizures, ataxia, hypotonia and later, developmental delay and deafness) and the cutaneous signs (rash, alopecia). An early treatment with biotin cures or prevents the clinical signs of the disease in most cases. SN - 0031-4021 UR - https://www.unboundmedicine.com/medline/citation/2812965/[Biotidinase_deficiency:_a_disease_with_neurologic_and_cutaneous_expression_susceptible_to_biotin]_ L2 - https://medlineplus.gov/neurologicdiseases.html DB - PRIME DP - Unbound Medicine ER -