Keywords: کمبود بیوتینیداز; Biotinidase deficiency; Biotinidase; Mutation; Biotin-responsive; Mutation database;
مقالات ISI کمبود بیوتینیداز (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: کمبود بیوتینیداز; Biotinidase deficiency; Gene transcription; Gene expression; Neurological abnormalities; Mouse; Knock-out mouse; Transgenic mouse;
Keywords: کمبود بیوتینیداز; Biotinidase; Biotinidase deficiency; Contiguous gene deletion; Mutation; Enzyme deficiency; Congenital myasthenic syndrome
Keywords: کمبود بیوتینیداز; Myelopathy; Biotinidase; Biotinidase deficiency; Biotin-responsive; Spinal disorder; Spastic paraplegia; Spastic tetraplegia; Vision loss; Scotoma;
Keywords: کمبود بیوتینیداز; Biotinidase deficiency; Profound biotinidase deficiency; Partial biotinidase deficiency; Biotinidase; Newborn screening; Screening;
Keywords: کمبود بیوتینیداز; Biotinidase deficiency; Biotinidase; Biotin; Cellular immunity; Biotinidase-deficient mouse; Multiple carboxylase deficiency;
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014)
Keywords: کمبود بیوتینیداز; Biotinidase deficiency; Metabolic disease; Mutation analysis; Newborn screening; Biochemical phenotype-genotype associations
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene
Keywords: کمبود بیوتینیداز; Biotinidase deficiency; Mutation; Intronic; Newborn screening; Transcription;
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration
Keywords: کمبود بیوتینیداز; Biotin; Biotin-responsive metabolic disorders; Biotinidase deficiency; Multiple carboxylase; Deficiency; Motor neuron impairment; Somatosensory impairment; Axonal damage; Transgenic knockout model;
Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency
Keywords: کمبود بیوتینیداز; Biotinidase deficiency; Magnetic Resonance Imaging; Subcortical cysts; Dandy–Walker variant; Video electroencephalogram
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme
Keywords: کمبود بیوتینیداز; BD; biotinidase deficiency; CIT 1; type I citrullinaemia; FFA; free fatty acid; GA-1; type I glutaric aciduria; GALE; classical galactosaemia; GALK; galactokinase deficiency; HPA; hyperphenylalaninaemia; IEM; inborn errors of metabolism; IQ; Intellectual
The neurology of biotinidase deficiency
Keywords: کمبود بیوتینیداز; Biotinidase; Biotinidase deficiency; Biotin-responsive; Carboxylase deficiency; Metabolic disease; Biotin;
Development and characterization of a mouse with profound biotinidase deficiency: A biotin-responsive neurocutaneous disorder
Keywords: کمبود بیوتینیداز; Biotinidase deficiency; Biotin; Transgenic; Knockout mouse; Animal model; Carboxylase deficiency; Multiple carboxylase deficiency; Metabolic disorders; Biotin-responsive disorders
Two unusual clinical and radiological presentations of biotinidase deficiency
Keywords: کمبود بیوتینیداز; Biotinidase deficiency; Spastic paraparesis; Neuroimaging
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)
Keywords: کمبود بیوتینیداز; Biotinidase deficiency; PCR; dHPLC; Mutation screening;
Epilepsy onset between one month and three months of life: Our 11 years experience
Keywords: کمبود بیوتینیداز; Biotinidase deficiency; Epilepsy; Cryptogenic epilepsy; Symptomatic epilepsy; Inborn error of metabolism; Infancy; Psychomotor delay; Dravet's syndromeDéficit de biotinidasa; Epilepsia; Epilepsias criptogénicas; Epilepsias sintomáticas; Error congénito de
Epilepsia de inicio entre el mes y los tres meses de vida: nuestra experiencia de 11 años
Keywords: کمبود بیوتینیداز; Déficit de biotinidasa; Epilepsia; Epilepsias criptogénicas; Epilepsias sintomáticas; Error congénito del metabolismo; Lactante; Retraso psicomotor; SÃndrome de Dravet; Biotinidase deficiency; Epilepsy; Cryptogenic epilepsy; Symptomatic epilepsy; Inb
Clinical issues and frequent questions about biotinidase deficiency
Keywords: کمبود بیوتینیداز; Biotinidase; Biotinidase deficiency; Biotin; Biocytin; Newborn screening;
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary
Keywords: کمبود بیوتینیداز; Biotinidase deficiency; Biotinidase activity; Mutation detection; Incidence; Newborn screening; Population genetics
Audiologic findings in children with biotinidase deficiency in Turkey
Keywords: کمبود بیوتینیداز; Biotinidase deficiency; Hearing loss; Peripheral hearing; Auditory brainstem response
Biotinidase: its role in biotinidase deficiency and biotin metabolism
Keywords: کمبود بیوتینیداز; Biotinidase; Biotinidase deficiency; Biotin; Alternative splicing; Subcellular localization; Biotinylation;