Myopathies due to enzyme deficiencies (Q39477219)

12 September 2017

Myopathies due to enzyme deficiencies (English)

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12 September 2017

F Cornelio

1

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PubMed ID

2934518

12 September 2017

S Di Donato

series ordinal

2

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12 September 2017

1 January 1985

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12 September 2017

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12 September 2017

232

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12 September 2017

6

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12 September 2017

329-340

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https://scigraph.springernature.com/pub.10.1007/bf00313831

12 September 2017

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cites work

Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.

1 reference

https://api.crossref.org/works/10.1007%2FBF00313831

Fatal infantile form of muscle phosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00313831

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00313831

The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00313831

Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00313831

Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00313831

Neuromuscular Disorder Associated With a Defect in Mitochondrial Energy Supply

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00313831

Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00313831

Fatal cases of lipid storage myopathy with carnitine deficiency

21 January 2018

1 reference

12 December 2020

McArdle disease: the mystery of reappearing phosphorylase activity in muscle culture--a fetal isoenzyme

1 reference

12 December 2020

A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

1 reference

12 December 2020

31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle.

1 reference

12 December 2020

Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

1 reference

12 December 2020

CARDIO-MUSCULAR GLYCOGENOSIS. STUDY OF 2 CASES

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12 December 2020

Hereditary deficiency of lactate dehydrogenase M-subunit

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12 December 2020

[Myopathic form of phosphofructokinase deficiency]

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12 December 2020

Acid maltase deficiency (type II glycogenosis). Morphological and biochemical study of a childhood phenotype

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12 December 2020

PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

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12 December 2020

A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE.

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12 December 2020

Mitochondria-lipid-glycogen (MLG) disease of muscle. A morphologically regressive congenital myopathy

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12 December 2020

"Carnitine deficient" myopathy and cardiomyopathy with fatal outcome

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12 December 2020

Contracture of phosphorylase deficient muscle

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12 December 2020

Improvement of muscle function in acid maltase deficiency by high-protein therapy

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12 December 2020

Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types

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12 December 2020

New techniques for studying human muscle function, metabolism, and fatigue

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12 December 2020

Carnitine metabolism and deficiency syndromes

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12 December 2020

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

1 reference

12 December 2020

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

1 reference

12 December 2020

Evidence for autosomal recessive inheritance in systemic carnitine deficiency

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12 December 2020

Adult-onset acid maltase deficiency: A postmortem study

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12 December 2020

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity

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12 December 2020

Carnitine palmityltransferase. Location of two enzymatic activities in rat liver mitochondria

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12 December 2020

Glycogen debrancher deficiency is reproduced in muscle culture

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12 December 2020

Myopathy due to a defect in muscle glycogen breakdown

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12 December 2020

Acid maltase deficiency in adults presenting as respiratory failure

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12 December 2020

Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies

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12 December 2020

Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.

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12 December 2020

Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis

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12 December 2020

Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls

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12 December 2020

Disorders of pyruvate metabolism

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12 December 2020

Residual acid maltase activity in late-onset acid maltase deficiency

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12 December 2020

Studies on carnitine palmitoyl transferase: the similar nature of CPTi (inner form) and CPTo (outer form)

1 reference

12 December 2020

Phosphoglycerate kinase isozyme profile in reproductive cells and tissues of cattle: sperm specificity of PGK-B1

1 reference

12 December 2020

Characterization of glycogen phosphorylase isoenzymes present in cultured skeletal muscle from patients with McArdle's disease

1 reference

12 December 2020

A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase

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12 December 2020

A mild form of muscular glycogenosis in two brothers with alpha-1, 4-glucosidase deficiency

1 reference

12 December 2020

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1 reference

12 December 2020

Assignment of three human genes to chromosomes (LDH-A to 11, TK to 17, and IDH to 20) and evidence for translocation between human and mouse chromosomes in somatic cell hybrids (thymidine kinase-lactate dehydrogenase A-isocitrate dehydrogenase-C-11,

1 reference

12 December 2020

Clinical varieties of neuromuscular disease in debrancher deficiency

1 reference

12 December 2020

Vacuolar myopathy with type 2 A fiber atrophy and type 2 B fiber deficiency. A case of childhood form acid alpha-1,4-glucosidase deficiency

1 reference

12 December 2020

Localization of the gene for human acid alpha-glucosidase (alpha-GLUa) on the 17q21 to 17qter by interspecific hybridization (author's transl)

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12 December 2020

Leukocyte debranching enzyme in glycogen storage disease

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12 December 2020

Examination of a case of suspected McArdle's syndrome by 31P nuclear magnetic resonance

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12 December 2020

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency

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12 December 2020

A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies

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12 December 2020

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

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12 December 2020

Human Muscle Phosphoglycerate Mutase Deficiency: Newly Discovered Metabolic Myopathy

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12 December 2020

Enzyme replacement in Pompe disease: an attempt with purified human acid alpha-glucosidase

1 reference

12 December 2020

Glycogen structure and enzyme deficiencies in glycogen storage disease

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12 December 2020

Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome

1 reference

12 December 2020

Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts

1 reference

12 December 2020

Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes

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12 December 2020

Acid maltase deficiency in adults. Clinical, morphological and biochemical study of three patients

1 reference

12 December 2020

Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue

1 reference

12 December 2020

Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency

1 reference

12 December 2020

Muscle carnitine deficiency and fatal cardiomyopathy

1 reference

12 December 2020

Systemic carnitine deficiency: Clinical, biochemical, and morphological cure with L-carnitine

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12 December 2020

Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle.

1 reference

12 December 2020

Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy

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12 December 2020

Nervous system in Pompe's disease. Ultrastructure and biochemistry

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12 December 2020

Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle

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12 December 2020

Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

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12 December 2020

Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy

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12 December 2020

McArdle's disease--what limit to the age of onset?

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12 December 2020

Muscle phosphogylcerate mutase (PGAM) deficiency: A second case

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12 December 2020

Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

1 reference

12 December 2020

NEUROPATHOLOGICAL AND NEUROCHEMICAL ASPECTS OF GENERALIZED GLYCOGEN STORAGE DISEASE

1 reference

12 December 2020

Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects in oxidative metabolism.

1 reference

12 December 2020

Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein.

1 reference

12 December 2020

Phosphoglycerate kinase: additional variants and their geographic distribution

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12 December 2020

Myophosphorylase deficiency: two different molecular etiologies

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12 December 2020

Isozymes of phosphofructokinase

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12 December 2020

Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH--cytochrome b reductase activity

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12 December 2020

Myoadenylate deaminase deficiency

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12 December 2020

Phosphoglycerate kinase: an X-linked polymorphism in man

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12 December 2020

Biochemical, immunological, and cell genetic studies in glycogenosis type II

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12 December 2020

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

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12 December 2020

GLYCOGEN SYNTHESIS IN MUSCLE LACKING PHOSPHORYLASE.

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12 December 2020

Muscular glycogenosis caused by alpha-1,4-glucosidase deficiency simulating progressive muscular dystrophy. (Clinical and enzyme study. Optic and electron microscopy)

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12 December 2020

Disorders of glycogen metabolism of muscle

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12 December 2020

Debrancher enzyme activity in blood cells of families with type III glycogen storage disease. A method for diagnosis of heterozygotes

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12 December 2020

Rapid Prenatal Diagnosis of Glycogen-Storage Disease Type II by Electron Microscopy of Uncultured Amniotic-Fluid Cells

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12 December 2020

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency

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12 December 2020

Clinical use of nuclear magnetic resonance in the investigation of myopathy

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12 December 2020

Late-onset Mcardle's disease with unusual electromyographic findings

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12 December 2020

Debrancher deficiency: Neuromuscular disorder in 5 adults

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12 December 2020

Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzyme

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12 December 2020

Measurement of long-chain acylcarnitine

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12 December 2020

Pompe's Disease: Detection of Heterozygotes by Lymphocyte Stimulation

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12 December 2020

Myopathy in McArdle's syndrome. Improvement with a high-protein diet

1 reference

12 December 2020

Congenital myopathy due to phosphorylase deficiency

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12 December 2020

1 reference

12 December 2020

Childhood mitochondrial myopathy with ophthalmoplegia

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12 December 2020

Mitochondrial myopathies

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12 December 2020

Familial congenital muscular dystrophy caused by phosphofructokinase deficiency

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12 December 2020

Fuel Homeostasis in Exercise

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12 December 2020

Immunological studies on glycogen storage diseases type III and V. Demonstration of the presence of an immunoreactive protein in one case of muscle phosphorylase deficiency

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12 December 2020

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

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12 December 2020

The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy

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12 December 2020

Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case

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12 December 2020

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

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12 December 2020

Myoadenylate Deaminase Deficiency: A New Disease of Muscle

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12 December 2020

Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy

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12 December 2020

Assignment of the human acid ?-glucosidase gene (?GLU) to chromosome 17 using somatic cell hybrids

1 reference

12 December 2020

Type III glycogenosis with multicore structures

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12 December 2020

Autophagic glycogenosis of late onset with mitochondrial abnormalities: light and electron microscopic observations

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12 December 2020

Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.

1 reference

12 December 2020

Reversal of debrancher deficiency myopathy by the use of high-protein nutrition.

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12 December 2020

Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease

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12 December 2020

White blood cells and the diagnosis of alpha-glucosidase deficiency

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12 December 2020

Heterogeneity of carnitine-palmitoyltransferase deficiency

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12 December 2020

Identifiers

DOI

10.1007/BF00313831

1 reference

12 September 2017

1 reference

PubMed ID

2934518