Novel mutations cause biotinidase deficiency in Turkish children

[1]  T. Coşkun,et al.  The major presenting symptom in a biotinidase-deficient patient: Laryngeal stridor , 1992, Journal of Inherited Metabolic Disease.

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

[3]  T. Coşkun,et al.  Biotinidase deficiency with neurological features resembling multiple sclerosis , 1997, Journal of Inherited Metabolic Disease.

[4]  B. Wolf,et al.  Mutations Causing Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States Occur at Different Frequencies than in Symptomatic Children , 1999, Pediatric Research.

[5]  T. Baykal,et al.  Incidence of biotinidase deficiency in Turkish newborns , 1998, Acta paediatrica.

[6]  B. Wolf,et al.  Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency. , 1998, Molecular genetics and metabolism.

[7]  G. Buck,et al.  Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States , 1998 .

[8]  G. Buck,et al.  Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online. , 1998, Human mutation.

[9]  G. Buck,et al.  Mutations in the Human Biotinidase Gene That Cause Profound Biotinidase Deficiency in Symptomatic Children: Molecular, Biochemical, and Clinical Analysis , 1997, Pediatric Research.

[10]  M. Blitzer,et al.  Profound biotinidase deficiency in two asymptomatic adults. , 1997, American journal of medical genetics.

[11]  G. Buck,et al.  Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. , 1997, Biochemical and molecular medicine.

[12]  H. Mandel,et al.  Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene. , 1997, Human molecular genetics.

[13]  T. Suormala,et al.  Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children , 1997, Human Genetics.

[14]  G. Buck,et al.  Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure. , 1996, Human molecular genetics.

[15]  Hisashi Tanaka,et al.  Characterization of p53 gene mutations in esophageal squamous cell carcinoma cell lines: Increased frequency and different spectrum of mutations from primary tumors , 1996, International journal of cancer.

[16]  Gregory A. Buck,et al.  Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency , 1995, Nature Genetics.

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

[18]  G. Buck,et al.  Human serum biotinidase. cDNA cloning, sequence, and characterization. , 1994, The Journal of biological chemistry.

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

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

[21]  W. Nyhan Inborn errors of biotin metabolism. , 1987, Archives of dermatology.

[22]  B. Burton,et al.  Sudden death associated with biotinidase deficiency. , 1987, Pediatrics.

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

[24]  H. Wood,et al.  Purification of biotinidase from human plasma and its activity on biotinyl peptides. , 1985, Biochemistry.

[25]  B. Wolf,et al.  Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin. , 1984, Journal of inherited metabolic disease.

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

[27]  J. Pispa Animal biotinidase. , 1965, Annales medicinae experimentalis et biologiae Fenniae.