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Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency

Author
TSUJINO, S1 ; SHANSKE, S1 ; SAKODA, S; TOSCANO, A; DIMAURO, S1
[1] Columbia-Presbyterian medical cent., H. Houston Merritt res. cent. muscular dystrophy related diseases, dep. neurology, New York NY 10032, United States
Conference title
International symposium on glycolytic and mitochondrial defects in muscle and nerve
Conference name
International symposium on glycolytic and mitochondrial defects in muscle and nerve (Osaka 1994-07-07)
Author (monograph)
TARUI, Seiichiro (Editor)1
[1] Osaka univ., Osaka, Japan
Source

Muscle & nerve. 1995, Vol 18, pp S50-S53 ; SUP3 ; ref : 39 ref

CODEN
MUNEDE
ISSN
0148-639X
Scientific domain
Neurology; Physiology, morphology
Publisher
Wiley, New York, NY
Publication country
United States
Document type
Conference Paper
Language
English
Keyword (fr)
Déficit Enzymopathie Glucide Glycogénose Génétique Homme Muscle strié pathologie Mutation Myopathie Phosphoglycerate mutase Enzyme Intramolecular transferases Isomerases Maladie héréditaire Métabolisme pathologie
Keyword (en)
Deficiency Enzymopathy Carbohydrate Glycogenosis Genetics Human Striated muscle disease Mutation Myopathy Phosphoglycerate mutase Enzyme Intramolecular transferases Isomerases Genetic disease Metabolic diseases
Keyword (es)
Déficiencia Enzimopatía Glúcido Glicogenosis Genética Hombre Músculo estriado patología Mutación Miopatía Phosphoglycerate mutase Enzima Intramolecular transferases Isomerases Enfermedad hereditaria Metabolismo patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D03 Carbohydrates (enzymatic deficiencies). Glycogenosis

Discipline
Metabolic diseases
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
3649703

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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