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pro vyhledávání: '"Rehab Al Jawad"'
Autor:
Rehab Al Jawad, Omhani Malibari
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 4, Iss 2, Pp 118-121 (2021)
Background: Alpha-mannosidosis [Online Mendelian Inheritance in Man (OMIM): 248500] is an autosomal recessive disorder due to a deficiency of the lysosomal enzyme alpha-mannosidase. It is an ultra-orphan disease. In this paper, we report a case of al
Externí odkaz:
https://doaj.org/article/b62836f94007437891412fe2b8a6479e
Autor:
Omhani Malibari, Rehab Al Jawad
Publikováno v:
Journal of Biochemical and Clinical Genetics. :118-121
Background: Alpha-mannosidosis [Online Mendelian Inheritance in Man (OMIM): 248500] is an autosomal recessive disorder due to a deficiency of the lysosomal enzyme alpha-mannosidase. It is an ultra-orphan disease. In this paper, we report a case of al