biotinidase

نتایج جستجو برای: biotinidase

تعداد نتایج: 922 فیلتر نتایج به سال:

Erratum to: Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India

Journal: :Indian Pediatrics 2015

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Development and characterization of a mouse with profound biotinidase deficiency: A biotin-responsive neurocutaneous disorder

Journal: :Molecular Genetics and Metabolism 2011

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A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots

Journal: :Journal of Pediatric Genetics 2015

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Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India

Journal: :JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH 2015

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The Story of Biotinidase Deficiency and Its Introduction into Newborn Screening: The Role of Serendipity

Journal: :International Journal of Neonatal Screening 2015

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Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration

Journal: :Neurobiology of Disease 2012

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Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation

Journal: :European Journal of Human Genetics 2001

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Brain Diffusion-Weighted and Diffusion Tensor Imaging Findings in an Infant with Biotinidase Deficiency: Fig 1.

Journal: :American Journal of Neuroradiology 2009

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Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure

Journal: :Human Molecular Genetics 1996

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A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit

Journal: :Balkan Medical Journal 2016

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