Metabolic Myopathies

scientific article published on 01 July 1979

Metabolic Myopathies is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

External links are
P356DOI10.1016/S0025-7125(16)31673-X
P953full work available at URLhttps://api.elsevier.com/content/article/PII:S002571251631673X?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S002571251631673X?httpAccept=text/xml
P698PubMed publication ID157414

P2093author name stringT. L. Munsat
E. P. Bosch
P2860cites workMyoadenylate Deaminase Deficiency: A New Disease of MuscleQ28116871
Muscle Carnitine Palmityltransferase Deficiency and MyoglobinuriaQ28245199
Steroid myopathy complicating McArdle's diseaseQ28363011
Weakness associated with the pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficienceyQ33756261
PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.Q33972151
Acute renal failure in McArdle's disease. Report of two casesQ34211190
A metabolic myopathy due to absence of muscle phosphorylaseQ34248513
Myopathy due to a defect in muscle glycogen breakdownQ34659734
Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscleQ35563950
Branching enzyme-deficiency glycogenosis: studies in therapyQ36061863
The pathology of type II skeletal muscle glycogenosis. A light and electron-microscopic studyQ36721839
Fatal cases of lipid storage myopathy with carnitine deficiencyQ37050461
Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal caseQ37052000
Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controlsQ37072936
Late-onset acid maltase deficiency. Detection of patients and heterozygotes by urinary enzyme assayQ39115998
Letter: Inborn error of carnitine metabolism ("carnitine deficiency") in manQ39328789
Acid maltase deficiency in non-identical adult twins. A morphological and biochemical studyQ39396054
Fatal infantile form of muscle phosphorylase deficiencyQ39630482
A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferaseQ39727955
Hereditary carnitine deficiency of muscleQ39727985
Disorders of glycogen and lipid metabolismQ39823074
CrampsQ39893902
Carnitine-palmityl-transferase deficiencyQ40034044
Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidneyQ40034057
The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic featuresQ40304719
Lipid storage myopathy with normal carnitine levelsQ40309638
Residual acid maltase activity in late-onset acid maltase deficiencyQ40475100
Partial Deficiency of Muscle Carnitine Palmitoyltransferase with Normal Ketone ProductionQ40519023
Adult-onset acid maltase deficiency: A postmortem studyQ41052901
McArdle disease: the mystery of reappearing phosphorylase activity in muscle culture--a fetal isoenzymeQ41420353
alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).Q41854457
Control of glycogen metabolism in human muscle. Evidence from glycogen storage diseasesQ43405579
The adult form of acid maltase (alpha-1,4-glucosidase) deficiencyQ43772352
Prenatal diagnosis of type II glycogenosis (Pompe's disease) using microchemical analysesQ44016096
Adult myopathy from glycogen storage disease due to acid maltase deficiencyQ44357482
Muscle carnitine deficiency and fatal cardiomyopathyQ44563593
Ultrastructural studies of muscle in McArdle's diseaseQ44573275
Histochemical diagnosis of muscle phosphofructokinase deficiencyQ45063320
Further studies of mitochondrial and lipid storage myopathiesQ48214254
Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathiesQ48954051
Biochemical and physiologic consequences of carnitine palmityltransferase deficiency.Q51665241
The spectrum and diagnosis of acid maltase deficiency.Q54261710
Myopathy associated with Type III glycogenosisQ54269418
Histochemical Phosphorylase Activity in Regenerating Muscle Fibers from Myophosphorylase-Deficient PatientsQ54372222
Myopathy associated with abnormal lipid metabolism in skeletal muscleQ55847298
Muscle Phosphofructokinase DeficiencyQ56453382
Adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscleQ66849146
Dominant inheritance of McArdle syndromeQ66856636
Muscle-Type Phosphorylase Activity Present in Muscle Cells Cultured From Three Patients With Myophosphorylase DeficiencyQ67038830
Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblastsQ67434820
Effect of ethanol on lactic acid production by exercised normal muscleQ67452084
Recurrent myoglobinuria and muscle carnitine palmityltransferase deficiencyQ67587370
Carnitine deficiency of skeletal muscle: report of a treated caseQ67769539
Phosphorylase deficiency associated with isometric exercise intoleranceQ67852291
A myopathy due to glycolytic abnormalityQ68402659
The molecular basis of muscle phosphofructokinase deficiencyQ68540374
Muscle phosphofructokinase deficiencyQ68771010
Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytesQ68793525
Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult typesQ68992811
Glycogenosis IV: A new cause of infantile hypotoniaQ68993564
Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from patientsQ69004663
Renal failure in McArdle's diseaseQ69004908
Glycogenosis type II (Pompe's disease): Ultrastructure of peripheral nervesQ69051379
Lipid storage myopathy responsive to prednisoneQ70410732
Clinical Studies of a Patient With Pyruvate Decarboxylase DeficiencyQ70578168
The clinical diagnosis of McArdle's disease. Identification of another family with deficiency of muscle phosphorylaseQ70869357
Muscular form of glycogenosis, type II (Pompe)Q70908110
The Subgroups of Type III GlycogenosisQ70923890
Late Infantile Acid Maltase DeficiencyQ70936126
Pompe's diseaseQ70982390
Type 3 glycogenosis. An adult with diffuse weakness and muscle wastingQ71065404
Light and electron microscopy of skeletal muscle in type IV glycogenosisQ71072947
A standardized forearm ischemic exercise testQ71725158
McArdle's syndrome (myopathy in muscle phosphorylase deficiency)Q72236052
Contracture in McArdle's disease. Stability of adenosine triphosphate during contracture in phosphorylase-deficient human muscleQ72729044
MCARDLE'S DISEASE. HEREDITARY MYOPATHY DUE TO ABSENCE OF MUSCLE PHOSPHORYLASEQ76527306
Hereditary absence of muscle phosphorylase (McArdle's syndrome)Q79021762
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectinherited metabolic disorderQ1758393
P304page(s)759-782
P577publication date1979-07-01
P1433published inMedical Clinics of North AmericaQ15761972
P1476titleMetabolic myopathies
P478volume63

Reverse relations

cites work (P2860)
Q81665506McArdle's disease resembling an inflammatory myopathy
Q36343648Rhabdomyolysis in Childhood: A Primer on Normal Muscle Function and Selected Metabolic Myopathies Characterized by Disordered Energy Production