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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 del 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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Deficiency, Muscle Phosphofructokinase
GSD VII
Glycogen Storage Disease VII
Muscle Phosphofructokinase Deficiency
Pfkm Deficiency
Tarui's Disease
Deficiencies, Muscle Phosphofructokinase
Deficiencies, Pfkm
Deficiency, Pfkm
Disease, Tarui
Disease, Tarui's
Muscle Phosphofructokinase Deficiencies
Pfkm Deficiencies
Phosphofructokinase Deficiencies, Muscle
Phosphofructokinase Deficiency, Muscle
Taruis Disease
Glycogenosis 7
Tarui 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 CID-10 LILACS
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