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JOURNAL OF INHERITED METABOLIC DISEASE
Rivista
Codice:
E092266
ISSN:
0141-8955
Dati Generali
Dati Generali
Pubblicazioni (11)
Pulisci
Ordina Pubblicazioni:
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Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response.
Articolo
Dietary treatment in adult-onset type II glycogenosis.
Articolo
Dietary treatment in adult-onset type II glycogenosis.
Articolo
Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia.
Articolo
Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses
Articolo
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
Articolo
MAMEL (METHYLMALONIC ACIDURIA MITOCHONDRIAL ENCEPHALOPATHY LEIGH-LIKE) A NEW MITOCHONDRIAL ENCEPHALOPATHY
Articolo
Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta.
Articolo
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency
Articolo
The interplay between protein stability and folding co-operativity in loss-of-function genetic disease: The case of human PGK1 deficiency.
Abstract
Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia
Articolo
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