نتایج جستجو برای: homocystinuria

تعداد نتایج: 575  

2006

2 Disease list and descriptions: A 15 2.1 Amino acid (AA) metabolism (aromatic) (Albinism, Alkaptonuria, Tyrosinemia, Waardenburg syndrome) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 2.1.1 Albinism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 2.1.2 Alkaptonuria . . . . . . . . . . . . . . . . . . ....

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Journal: :Child Neurology Open 2014

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Journal: :Archives of Disease in Childhood 1980

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Journal: :Journal of Clinical Case Reports 2017

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Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1969

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2018
Elena Voskoboeva Alla Semyachkina Maria Yablonskaya Ekaterina Nikolaeva

We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the CBS gene for thirteen patients from eleven unrelated genealogies. All patients except for the two were compound heterozygotes for the mutations detected. The most frequent mutation in the cohort investigated was splice mutation IVS11-2a->c. We detected one new non...

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Journal: :The Tohoku Journal of Experimental Medicine 1968

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Journal: :Orphanet Journal of Rare Diseases 2019

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Journal: :BMJ Case Reports 2016

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Journal: :Molecular Therapy 2018

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