Results 111 to 120 of about 604 (121)
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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
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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
2008Facultad de Ciencias ...
Aparicio, M. +5 more
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Nódulos Hepáticos en Adolescente con Glucogenosis Tipo Ia
2012The 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
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Nutrición en enfermedades metabólicas de hidratos de carbono : glucogenosis.
2016Código de proyecto: GNH ...
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Glucogenosis, hiperoxalurias, aminoacidopatías e hiperlipidemias: manifestaciones osteoarticulares
EMC - Aparato Locomotor, 2017exaly
[Histologic diagnosis of glucogenosis type IV (amylopectinosis) (author's transl)].
Zeitschrift fur Kinderheilkunde, 1974openaire +1 more source

