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AMD
Acid maltase deficiency
Amylopectinosis
Amylopectinosis brancher deficiency
Andersen disease
Andersen's disease
Brancher deficiency
Brancher enzyme deficiency
Familia
GSD IV
GSD-II
Gierke's disease
Glycogen storage disease I
Glycogen storage disease type II
Glycogen storage disease type IV
Glycogenosis IV
Glycogenosis type II
Hepatorenal glycogenosis
Iron storage disease
Lipid storage disorders
Lysosomal disease
Lysosomal storage disease
Myopathy in glycogen storage disease
Najjar-Andersen syndrome
Pompe disease
Storage disease
Type 1 glycogenosis
Type I glycogen storage disease
Von Gierke's disease

Traduction de «Lysosomal storage disease » (Anglais → Français) :

A lysosomal storage disease with clinical characteristics of psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration or strabismus. The disease is rare in the general population but is more prevalent among As

mucolipidose type IV


lysosomal disease | lysosomal storage disease

déficit du stockage lysosomal | maladie lysosomiale


type I glycogen storage disease [ von Gierke's disease | Gierke's disease | type 1 glycogenosis | glycogen storage disease I | hepatorenal glycogenosis ]

maladie de von Gierke [ glycogénose de type I | glycogénose hépato-rénale ]


An extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal

glycogénose avec cardiomyopathie sévère par déficit en glycogénine


Myopathy in:glycogen storage disease (E74.0+) | lipid storage disorders (E75.-+)

Myopathie au cours d'anomalies de stockage (du) (des):glycogène (E74.0+) | lipides (E75.-+)


acid maltase deficiency | glycogen storage disease type II | glycogenosis type II | Pompe disease | AMD [Abbr.] | GSD-II [Abbr.]

déficit en maltase acide | glycogénose de type II | maladie de Pompe | GSD II [Abbr.]




Andersen's disease [ Andersen disease | Najjar-Andersen syndrome | glycogenosis IV | glycogen storage disease type IV | GSD IV | alpha 1,4-glucan-6-glucosyl transferase deficiency | amylopectinosis brancher deficiency | brancher enzyme deficiency | brancher deficiency | amylopectinosis | familia ]

maladie d'Andersen [ glycogénose musculaire type IV ]






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