Associated Papers
Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.
Kido J et al.
Journal of Inherited Metabolic Disease, 2024
[The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].
Ji YC et al.
Yi Chuan = Hereditas, 2011
Mutations and polymorphisms of the gene of the major human blood protein, serum albumin.
Minchiotti L et al.
Human Mutation, 2008
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.
Neerman-Arbez M et al.
Human Mutation, 2007
Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
Hobson GM et al.
Neurology, 2000
[Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII].
Ueno H et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1991
[Case report of congenital deficiency of factor V and factor VIII].
Vujaklija-Stipanović K et al.
Bilten Za Hematologiju I Transfuziju, 1979
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