scholarly article | Q13442814 |
review article | Q7318358 |
P2093 | author name string | T. L. Munsat | |
E. P. Bosch | |||
P2860 | cites work | Myoadenylate Deaminase Deficiency: A New Disease of Muscle | Q28116871 |
Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria | Q28245199 | ||
Steroid myopathy complicating McArdle's disease | Q28363011 | ||
Weakness associated with the pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficiencey | Q33756261 | ||
PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS. | Q33972151 | ||
Acute renal failure in McArdle's disease. Report of two cases | Q34211190 | ||
A metabolic myopathy due to absence of muscle phosphorylase | Q34248513 | ||
Myopathy due to a defect in muscle glycogen breakdown | Q34659734 | ||
Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle | Q35563950 | ||
Branching enzyme-deficiency glycogenosis: studies in therapy | Q36061863 | ||
The pathology of type II skeletal muscle glycogenosis. A light and electron-microscopic study | Q36721839 | ||
Fatal cases of lipid storage myopathy with carnitine deficiency | Q37050461 | ||
Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case | Q37052000 | ||
Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls | Q37072936 | ||
Late-onset acid maltase deficiency. Detection of patients and heterozygotes by urinary enzyme assay | Q39115998 | ||
Letter: Inborn error of carnitine metabolism ("carnitine deficiency") in man | Q39328789 | ||
Acid maltase deficiency in non-identical adult twins. A morphological and biochemical study | Q39396054 | ||
Fatal infantile form of muscle phosphorylase deficiency | Q39630482 | ||
A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase | Q39727955 | ||
Hereditary carnitine deficiency of muscle | Q39727985 | ||
Disorders of glycogen and lipid metabolism | Q39823074 | ||
Cramps | Q39893902 | ||
Carnitine-palmityl-transferase deficiency | Q40034044 | ||
Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney | Q40034057 | ||
The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features | Q40304719 | ||
Lipid storage myopathy with normal carnitine levels | Q40309638 | ||
Residual acid maltase activity in late-onset acid maltase deficiency | Q40475100 | ||
Partial Deficiency of Muscle Carnitine Palmitoyltransferase with Normal Ketone Production | Q40519023 | ||
Adult-onset acid maltase deficiency: A postmortem study | Q41052901 | ||
McArdle disease: the mystery of reappearing phosphorylase activity in muscle culture--a fetal isoenzyme | Q41420353 | ||
alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). | Q41854457 | ||
Control of glycogen metabolism in human muscle. Evidence from glycogen storage diseases | Q43405579 | ||
The adult form of acid maltase (alpha-1,4-glucosidase) deficiency | Q43772352 | ||
Prenatal diagnosis of type II glycogenosis (Pompe's disease) using microchemical analyses | Q44016096 | ||
Adult myopathy from glycogen storage disease due to acid maltase deficiency | Q44357482 | ||
Muscle carnitine deficiency and fatal cardiomyopathy | Q44563593 | ||
Ultrastructural studies of muscle in McArdle's disease | Q44573275 | ||
Histochemical diagnosis of muscle phosphofructokinase deficiency | Q45063320 | ||
Further studies of mitochondrial and lipid storage myopathies | Q48214254 | ||
Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies | Q48954051 | ||
Biochemical and physiologic consequences of carnitine palmityltransferase deficiency. | Q51665241 | ||
The spectrum and diagnosis of acid maltase deficiency. | Q54261710 | ||
Myopathy associated with Type III glycogenosis | Q54269418 | ||
Histochemical Phosphorylase Activity in Regenerating Muscle Fibers from Myophosphorylase-Deficient Patients | Q54372222 | ||
Myopathy associated with abnormal lipid metabolism in skeletal muscle | Q55847298 | ||
Muscle Phosphofructokinase Deficiency | Q56453382 | ||
Adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscle | Q66849146 | ||
Dominant inheritance of McArdle syndrome | Q66856636 | ||
Muscle-Type Phosphorylase Activity Present in Muscle Cells Cultured From Three Patients With Myophosphorylase Deficiency | Q67038830 | ||
Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts | Q67434820 | ||
Effect of ethanol on lactic acid production by exercised normal muscle | Q67452084 | ||
Recurrent myoglobinuria and muscle carnitine palmityltransferase deficiency | Q67587370 | ||
Carnitine deficiency of skeletal muscle: report of a treated case | Q67769539 | ||
Phosphorylase deficiency associated with isometric exercise intolerance | Q67852291 | ||
A myopathy due to glycolytic abnormality | Q68402659 | ||
The molecular basis of muscle phosphofructokinase deficiency | Q68540374 | ||
Muscle phosphofructokinase deficiency | Q68771010 | ||
Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes | Q68793525 | ||
Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types | Q68992811 | ||
Glycogenosis IV: A new cause of infantile hypotonia | Q68993564 | ||
Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from patients | Q69004663 | ||
Renal failure in McArdle's disease | Q69004908 | ||
Glycogenosis type II (Pompe's disease): Ultrastructure of peripheral nerves | Q69051379 | ||
Lipid storage myopathy responsive to prednisone | Q70410732 | ||
Clinical Studies of a Patient With Pyruvate Decarboxylase Deficiency | Q70578168 | ||
The clinical diagnosis of McArdle's disease. Identification of another family with deficiency of muscle phosphorylase | Q70869357 | ||
Muscular form of glycogenosis, type II (Pompe) | Q70908110 | ||
The Subgroups of Type III Glycogenosis | Q70923890 | ||
Late Infantile Acid Maltase Deficiency | Q70936126 | ||
Pompe's disease | Q70982390 | ||
Type 3 glycogenosis. An adult with diffuse weakness and muscle wasting | Q71065404 | ||
Light and electron microscopy of skeletal muscle in type IV glycogenosis | Q71072947 | ||
A standardized forearm ischemic exercise test | Q71725158 | ||
McArdle's syndrome (myopathy in muscle phosphorylase deficiency) | Q72236052 | ||
Contracture in McArdle's disease. Stability of adenosine triphosphate during contracture in phosphorylase-deficient human muscle | Q72729044 | ||
MCARDLE'S DISEASE. HEREDITARY MYOPATHY DUE TO ABSENCE OF MUSCLE PHOSPHORYLASE | Q76527306 | ||
Hereditary absence of muscle phosphorylase (McArdle's syndrome) | Q79021762 | ||
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | inherited metabolic disorder | Q1758393 |
P304 | page(s) | 759-782 | |
P577 | publication date | 1979-07-01 | |
P1433 | published in | Medical Clinics of North America | Q15761972 |
P1476 | title | Metabolic myopathies | |
P478 | volume | 63 |