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DeCS
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Descriptor English:
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Glycogen Storage Disease Type VII
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Descriptor Spanish:
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enfermedad por almacenamiento de glucógeno tipo VII
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Descriptor Portuguese:
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Doença de Depósito de Glicogênio Tipo VII
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Synonyms English:
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Deficiencies, Muscle Phosphofructokinase
Deficiencies, Pfkm
Deficiency, Muscle Phosphofructokinase
Deficiency, Pfkm
Disease, Tarui
Disease, Tarui's
GSD VII
Glycogen Storage Disease VII
Glycogenosis 7
Muscle Phosphofructokinase Deficiencies
Muscle Phosphofructokinase Deficiency
Pfkm Deficiencies
Pfkm Deficiency
Phosphofructokinase Deficiencies, Muscle
Phosphofructokinase Deficiency, Muscle
Tarui Disease
Tarui's Disease
Taruis Disease
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Tree Number:
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C05.651.534.500.149
C10.668.491.175.500.112
C16.320.565.202.449.600
C16.320.577.149
C18.452.648.202.449.600
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Definition English:
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An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant. |
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Indexing Annotation English:
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do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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History Note English:
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91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 7 see under GLYCOGENOSIS 1975-88
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Allowable Qualifiers English:
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Record Number:
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24397
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Unique Identifier:
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D006014
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Occurrence in VHL:
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Similar:
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DeCS
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