Results 111 to 120 of about 604 (121)
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Forma grave de glucogenosis tipo II juvenil en un niño heterocigoto compuesto (Tyr-292->Cys/Arg-854->Stop)

Revista de Neurología, 1999
Introduction. Type II glycogenosis is a glycogen storage disease inherited as an autosomal recessive trait. This molecular and clinically heterogeneous condition is due to a deficiency in a lysosomal acid 1,4-alpha- glucosidase. Objective. To report the clinical, enzymatic and molecular characterization of a mulatto child, born to healthy Dominican ...
Manuel Castro Gago   +5 more
openaire   +1 more source

Glucogenosis tipo II en un cachorro Rottweiler

2008
Facultad de Ciencias ...
Aparicio, M.   +5 more
openaire   +1 more source

Nódulos Hepáticos en Adolescente con Glucogenosis Tipo Ia

2012
The type I glycogenosis Gierke's Disease is a metabolic disease, hereditary deficiency of glucose-6-phosphatase, which causes abnormal accumulation of glycogen in liver, kidney and intestinal mucosa. Clinical manifestations: hypoglycemia, hepatomegaly, hyperlactataemia, hyperlipidemia.
Quintana, Betzabeth   +3 more
openaire   +1 more source

GLUCOGENOSIS TIPO V.

2018
Angela Catalina Sosa Molano   +2 more
openaire   +1 more source

GLUCOGENOSIS TIPO II.

2018
Carlos Javier Alméciga Díaz   +2 more
openaire   +1 more source

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