191 related articles for article (PubMed ID: 2356250)
1. [Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia].
Anger H; Lorenz K; Cobet G
Psychiatr Neurol Med Psychol (Leipz); 1990 Mar; 42(3):163-6. PubMed ID: 2356250
[TBL] [Abstract][Full Text] [Related]
2. Biotinidase deficiency: initial clinical features and rapid diagnosis.
Wolf B; Heard GS; Weissbecker KA; McVoy JR; Grier RE; Leshner RT
Ann Neurol; 1985 Nov; 18(5):614-7. PubMed ID: 4073853
[TBL] [Abstract][Full Text] [Related]
3. Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Baumgartner ER; Suormala T
Int J Vitam Nutr Res; 1997; 67(5):377-84. PubMed ID: 9350481
[TBL] [Abstract][Full Text] [Related]
4. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Wolf B; Grier RE; Allen RJ; Goodman SI; Kien CL
Clin Chim Acta; 1983 Jul; 131(3):273-81. PubMed ID: 6883721
[TBL] [Abstract][Full Text] [Related]
5. Phenotypic variation in biotinidase deficiency.
Wolf B; Grier RE; Allen RJ; Goodman SI; Kien CL; Parker WD; Howell DM; Hurst DL
J Pediatr; 1983 Aug; 103(2):233-7. PubMed ID: 6875714
[TBL] [Abstract][Full Text] [Related]
6. [Biotinidase deficiency. Progressive encephalopathy curable with biotin].
Héron B; Gautier A; Dulac O; Ponsot G
Arch Fr Pediatr; 1993 Dec; 50(10):875-8. PubMed ID: 8053766
[TBL] [Abstract][Full Text] [Related]
7. Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
Campana G; Valentini G; Legnaioli MI; Giovannucci-Uzielli ML; Pavari E
Ophthalmic Paediatr Genet; 1987 Jun; 8(2):125-9. PubMed ID: 3658339
[TBL] [Abstract][Full Text] [Related]
8. [Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony].
Schweitzer S; Sander J; Suormala T; Baumgartner R; Byrd DJ; Brodehl J
Monatsschr Kinderheilkd; 1991 Jun; 139(6):349-54. PubMed ID: 1896047
[TBL] [Abstract][Full Text] [Related]
9. [Biotinidase deficiency. Its form of presentation and response to treatment].
Campistol J; Vilaseca MA; Ribes A; Riudor E
An Esp Pediatr; 1996 Apr; 44(4):389-92. PubMed ID: 8796946
[No Abstract] [Full Text] [Related]
10. [Biotinidase deficiency].
Casado de Frías E
An R Acad Nac Med (Madr); 1997; 114(4):817-27; discussion 827-8. PubMed ID: 9616944
[No Abstract] [Full Text] [Related]
11. Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
Mitchell G; Ogier H; Munnich A; Saudubray JM; Shirrer J; Charpentier C; Rocchiccioli F
Neuropediatrics; 1986 Aug; 17(3):129-31. PubMed ID: 3762868
[TBL] [Abstract][Full Text] [Related]
12. Biotinidase deficiency: early neurological presentation.
Collins JE; Nicholson NS; Dalton N; Leonard JV
Dev Med Child Neurol; 1994 Mar; 36(3):268-70. PubMed ID: 8138076
[TBL] [Abstract][Full Text] [Related]
13. [Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H].
Nothjunge J; Krägeloh-Mann I; Suormala TM; Baumgartner ER
Monatsschr Kinderheilkd; 1989 Nov; 137(11):737-40. PubMed ID: 2608075
[TBL] [Abstract][Full Text] [Related]
14. Biotinidase deficiency.
Wolf B; Heard GS
Adv Pediatr; 1991; 38():1-21. PubMed ID: 1927696
[No Abstract] [Full Text] [Related]
15. Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness.
Tsao CY; Kien CL
J Child Neurol; 2002 Feb; 17(2):146. PubMed ID: 11952077
[TBL] [Abstract][Full Text] [Related]
16. Biotinidase deficiency: result of treatment with biotin from age 12 years.
Casado de Frías E; Campos-Castelló J; Careaga Maldonado J; Pérez Cerdá C
Eur J Paediatr Neurol; 1997; 1(5-6):173-6. PubMed ID: 10728214
[TBL] [Abstract][Full Text] [Related]
17. Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.
Norrgard KJ; Pomponio RJ; Hymes J; Wolf B
Pediatr Res; 1999 Jul; 46(1):20-7. PubMed ID: 10400129
[TBL] [Abstract][Full Text] [Related]
18. Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.
Bressman S; Fahn S; Eisenberg M; Brin M; Maltese W
Adv Neurol; 1986; 43():119-25. PubMed ID: 3946108
[TBL] [Abstract][Full Text] [Related]
19. [Biotinidase deficiency (late-onset multiple carboxylase deficiency)].
Sakamoto O; Narisawa K
Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):223-4. PubMed ID: 9645048
[No Abstract] [Full Text] [Related]
20. [Results of a pilot study of neonatal screening for congenital biotinidase deficiency].
Sander J; Niehaus C
Monatsschr Kinderheilkd; 1986 Oct; 134(10):729-32. PubMed ID: 3796633
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]