The neurology of biotinidase deficiency.

[1]  P. Singhi,et al.  Ohtahara Syndrome With Biotinidase Deficiency , 2011, Journal of child neurology.

[2]  Caiying Guo,et al.  Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. , 2011, Molecular genetics and metabolism.

[3]  Marjorie E. Bunch,et al.  Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency , 2011, Seizure.

[4]  S. Bhate,et al.  Two unusual clinical and radiological presentations of biotinidase deficiency. , 2010, European journal of paediatric neurology.

[5]  A. Barkovich,et al.  Brain Diffusion-Weighted and Diffusion Tensor Imaging Findings in an Infant with Biotinidase Deficiency , 2009, American Journal of Neuroradiology.

[6]  M. Rathi,et al.  Biotinidase deficiency with hypertonia as unusual feature. , 2009, Indian pediatrics.

[7]  K. Ganesan,et al.  Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients , 2008, Pediatric Radiology.

[8]  B. Wolf,et al.  Profound Biotinidase Deficiency in a Child With Predominantly Spinal Cord Disease , 2008, Journal of child neurology.

[9]  T. Coşkun,et al.  Hearing loss in biotinidase deficiency: genotype-phenotype correlation. , 2007, The Journal of pediatrics.

[10]  P. Zalloua,et al.  Novel Mutation Causing Partial Biotinidase Deficiency in a Syrian Boy With Infantile Spasms and Retardation , 2006, Journal of child neurology.

[11]  P. Kaplan,et al.  Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia , 1995, Journal of Inherited Metabolic Disease.

[12]  R. Wanders,et al.  Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency , 1994, European Journal of Pediatrics.

[13]  B. Wolf.  Worldwide survey of neonatal screening for biotinidase deficiency , 1991, Journal of Inherited Metabolic Disease.

[14]  J. Suñé,et al.  Requirement of high biotin doses in a case of biotinidase deficiency , 1989, Journal of Inherited Metabolic Disease.

[15]  C. Dionisi-Vici,et al.  Laryngeal stridor as a leading symptom in a biotinidase-deficient patient , 1988, Journal of Inherited Metabolic Disease.

[16]  P. Balestri,et al.  Biotinidase deficiency: metabolites in CSF , 1986, Journal of Inherited Metabolic Disease.

[17]  M. Rolland,et al.  Galactose-1-phosphate-uridyl transferase activity in chorionic villi: A first trimester prenatal diagnosis of galactosaemia , 1986, Journal of Inherited Metabolic Disease.

[18]  S. K. Wadman,et al.  Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency , 1985, Journal of Inherited Metabolic Disease.

[19]  S. Lindstedt,et al.  Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency , 1985, Journal of Inherited Metabolic Disease.

[20]  B. Wolf,et al.  Biotinidase deficiency: A novel vitamin recycling defect , 1985, Journal of Inherited Metabolic Disease.

[21]  G. Gascon,et al.  William Henry Olson (1936-2003) , 2004 .

[22]  J. Leonard,et al.  Biotinidase deficiency: a treatable leukoencephalopathy. , 2004, Neuropediatrics.

[23]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[24]  H. Lenard,et al.  Cerebral metabolic changes in biotinidase deficiency , 1997, Journal of Inherited Metabolic Disease.

[25]  T. Suormala,et al.  Cerebrospinal fluid organic acids in biotinidase deficiency , 1993, Journal of Inherited Metabolic Disease.

[26]  S. Lottenberg,et al.  Cerebral metabolic change after treatment in biotinidase deficiency , 1993, Journal of Inherited Metabolic Disease.

[27]  M. Honavar,et al.  Neuropathology of biotinidase deficiency , 2004, Acta Neuropathologica.

[28]  M. Wiznitzer,et al.  Biotinidase deficiency: clinical and MRI findings consistent with myelopathy. , 2003, Pediatric neurology.

[29]  C. Stanley,et al.  Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency , 2002, Hearing Research.

[30]  B. Wolf,et al.  Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. , 2002, The Journal of pediatrics.

[31]  S. Korman,et al.  Reversible deafness caused by biotinidase deficiency. , 2000, Pediatric neurology.

[32]  M. Kabra,et al.  Biotinidase deficiency—A treatable entity , 2000, Indian Journal of Pediatrics.

[33]  T. Suormala,et al.  Delayed-onset profound biotinidase deficiency. , 1998, The Journal of pediatrics.

[34]  S. Rahman,et al.  Late presentation of biotinidase deficiency with acute visual loss and gait disturbance , 1997, Developmental medicine and child neurology.

[35]  M. F. Christensen,et al.  Biotinidase deficiency: two cases of very early presentation , 1997, Developmental medicine and child neurology.

[36]  R. Rosenberg.  The Molecular and Genetic Basis of Neurological Disease , 1997 .

[37]  E. Casado de Frías,et al.  Biotinidase deficiency: result of treatment with biotin from age 12 years. , 1997, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[38]  B. Wolf,et al.  Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency. , 1995, Biochemical and molecular medicine.

[39]  L. Rybak.  Metabolic Disorders of the Vestibular System , 1995, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

[40]  C. De Felice,et al.  Biotinidase activity in the urine of healthy subjects. , 1995, Nephron.

[41]  G. Gascon,et al.  The clinical spectrum of biotin-treatable encephalopathies in Saudi Arabia , 1994, Brain and Development.

[42]  G. Gascon,et al.  Movement disorders in childhood organic acidurias Clinical, neuroimaging, and biochemical correlations , 1994, Brain and Development.

[43]  T. Coşkun,et al.  Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases. , 1994, The Turkish journal of pediatrics.

[44]  R. Minns,et al.  Biotinidase deficiency in Scotland. , 1994, Developmental medicine and child neurology.

[45]  J. Leonard,et al.  Biotimdcsse Deficiency: Early Neurological Presentation , 1994 .

[46]  O. Kalayci,et al.  Infantile spasms as the initial symptom of biotinidase deficiency. , 1994, The Journal of pediatrics.

[47]  O. Dulac,et al.  Déficit en biotinidase. Une encéphalopathie progressive curable par la biotine. , 1993 .

[48]  P. Camfield,et al.  Reversal of brain atrophy with biotin treatment in biotinidase deficiency. , 1993, Neuropediatrics.

[49]  B. Wolf,et al.  Characterization of seizures associated with biotinidase deficiency , 1993, Neurology.

[50]  C. Roman-Shriver,et al.  Depletion and repletion of biotinyl enzymes in liver of biotin-deficient rats: evidence of a biotin storage system. , 1993, The Journal of nutrition.

[51]  D. Branski,et al.  Deteriorating neurological and neuroradiological course in treated biotinidase deficiency. , 1993, Neuropediatrics.

[52]  G. Rau,et al.  Recovery from Neurological Deficits Following Biotin Treatment in a Biotinidase Km Variant , 1993, Neuropediatrics.

[53]  B. Wolf,et al.  Ophthalmologic findings in biotinidase deficiency. , 1993, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

[54]  T. Suormala,et al.  A biotinidase Km variant causing late onset bilateral optic neuropathy. , 1992, Archives of disease in childhood.

[55]  L. Rybak,et al.  Rat as a Potential Model for Hearing Loss in Biotinidase Deficiency , 1991, The Annals of otology, rhinology, and laryngology.

[56]  B. Wolf,et al.  Biotinidase deficiency in black children. , 1990, The Journal of pediatrics.

[57]  K. Hayakawa,et al.  Biotinidase in the porcine cerebrum. , 1990, Archives of biochemistry and biophysics.

[58]  B. Wolf,et al.  Screening for biotinidase deficiency in newborns: worldwide experience. , 1990, Pediatrics.

[59]  J. Saudubray,et al.  Biotin‐Responsive Infantile Encephalopathy: EEG‐Polygraphic Study of a Case , 1989, Epilepsia.

[60]  T. Suormala,et al.  Biotinidase Deficiency: A Cause of Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome). Report of a Case with Lethal Outcome , 1989, Pediatric Research.

[61]  O. Elpeleg,et al.  BIOTINIDASE DEFICIENCY ASSOCIATED WITH SEVERE COMBINED IMMUNODEFICIENCY , 1989, The Lancet.

[62]  T. Suormala,et al.  Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC). , 1988, Clinica chimica acta; international journal of clinical chemistry.

[63]  M. Fishman,et al.  Basal ganglia calcifications in a case of biotinidase deficiency , 1988, Neurology.

[64]  W. Macklin,et al.  Biotin enrichment in oligodendrocytes in the rat brain , 1988, Brain Research.

[65]  D Brahams,et al.  Mentally incapable adults: consent to treatment. , 1987, Lancet.

[66]  P. W. Chan,et al.  A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency. , 1986, Clinica chimica acta; international journal of clinical chemistry.

[67]  A. Munnich,et al.  Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. , 1986, Neuropediatrics.

[68]  M. Painter,et al.  Biotinidase deficiency , 1986, Neurology.

[69]  J. Tateishi,et al.  Thiamine-deficient encephalopathy in rats: Effects of deficiencies of thiamine and magnesium , 1986, Brain Research.

[70]  B. Wolf,et al.  Biotinidase deficiency: Initial clinical features and rapid diagnosis , 1985, Annals of neurology.

[71]  B. Wolf,et al.  Neurologic symptoms of biotinidase deficiency , 1985, Neurology.

[72]  T. Suormala,et al.  Biotinidase Deficiency Associated with Renal Loss of Biocytin and Biotin , 1985, Annals of the New York Academy of Sciences.

[73]  B. Wolf,et al.  PANCREATIC BIOTINIDASE ACTIVITY: THE POTENTIAL FOR INTESTINAL PROCESSING OF DIETARY PROTEIN-BOUND BIOTIN , 1984, Pediatric Research.

[74]  T. Suormala,et al.  Detection of biocytin in urine of children with congenital biotinidase deficiency. , 1984, International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition.

[75]  A. Superti-Furga,et al.  Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency. , 1984, Journal of inherited metabolic disease.

[76]  B. Wolf,et al.  HEARING LOSS IN BIOTINIDASE DEFICIENCY , 1983, The Lancet.

[77]  L. Taitz,et al.  BIOTINIDASE DEFICIENCY AND THE EYE AND EAR , 1983, The Lancet.

[78]  W. Parker,et al.  Phenotypic variation in biotinidase deficiency. , 1983, The Journal of pediatrics.

[79]  B. Wolf,et al.  Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. , 1983, Clinica chimica acta; international journal of clinical chemistry.

[80]  S. Packman,et al.  Brain pyruvate carboxylase and the pathophysiology of biotin‐dependent diseases , 1982, Neurology.

[81]  H. Pillsbury.  Metabolic causes of hearing loss and vertigo. , 1981, Otolaryngologic clinics of North America.

[82]  S. Packman,et al.  Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: A biotin‐responsive disorder , 1980, Annals of neurology.

[83]  D. Balnave.  Clinical symptoms of biotin deficiency in animals. , 1977, The American journal of clinical nutrition.

[84]  Bonjour Jp.  Biotin in man's nutrition and therapy -- a review. , 1977 .

[85]  M. Stanford.  Jean Redman Oliver. , 1976, Lancet.

[86]  J. Moss,et al.  The biotin-dependent enzymes. , 1971, Advances in enzymology and related areas of molecular biology.

[87]  M. Lane,et al.  THE ENZYMATIC SYNTHESIS OF HOLOTRANSCARBOXYLASE FROM APOTRANSCARBOXYLASE AND (+)-BIOTIN. I. PURIFICATION OF THE APOENZYME AND SYNTHETASE; CHARACTERISTICS OF THE REACTION. , 1964, The Journal of biological chemistry.

[88]  R. P. Spencer,et al.  BIOTIN TRANSPORT BY SMALL INTESTINE OF RAT, HAMSTER, AND OTHER SPECIES. , 1964, The American journal of physiology.

[89]  W. H. Peterson,et al.  The enzymatic degradation of soluble bound biotin. , 1954, The Journal of biological chemistry.

[90]  Calvert Ca.  Development of neurosurgery. , 1946 .

[91]  R. Williams.  Clinical Biotin Deficiency , 1943 .