Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine

Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome

1973 • 777 citations

The syndrome of systemic carnitine deficiency

1975 • 397 citations

Uncoupling activity of long-chian fatty acids

1962 • 310 citations

Systemic Carnitine Deficiency — A Treatable Inherited Lipid-Storage Disease Presenting as Reye's Syndrome

1980 • 249 citations

Selective and Nonselective Susceptibility of Muscle Fiber Types

1970 • 247 citations

Systemic Carnitine Deficiency Presenting as Familial Endocardial Fibroelastosis

1981 • 240 citations

CARNITINE DEFICIENCY INDUCED DURING INTERMITTENT HÆMODIALYSIS FOR RENAL FAILURE

1978 • 222 citations

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

1980 • 203 citations

Deficiency of Carnitine in Cachectic Cirrhotic Patients

1977 • 182 citations

Hereditary Mitochondrial Myopathy with Lactic Acidemia, A DeToni-Fanconi-Debr?? Syndrome, and a Defective Respiratory Chain in Voluntary Striated Muscles

1977 • 177 citations

Disorders of lipid metabolism in muscle

1980 • 123 citations

Recurrent Hypoglycemia Associated with Glutaric Aciduria Type II in an Adult

1979 • 116 citations

Decreased tissue carnitine concentrations in newborn infants receiving total parenteral nutrition

1981 • 116 citations

Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney

1976 • 107 citations

Pathologie der Muskulatur

1982 • 107 citations

EFFECTS OF ETHIDIUM BROMIDE ON THE CYTOCHROME CONTENT AND ULTRASTRUCTURE OF L CELL MITOCHONDRIA

1971 • 93 citations

Carnitine deficiency in premature infants receiving total parenteral nutrition

1980 • 91 citations

Fatal cases of lipid storage myopathy with carnitine deficiency.

1977 • 91 citations

Muscle carnitine deficiency and fatal cardiomyopathy

1978 • 84 citations

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

1979 • 83 citations

Electron microscopic observations in thyrotoxic and corticosteroid-induced myopathies.

1966 • 80 citations

THE EFFECT OF GLUTARALDEHYDE ON CATALASE

1974 • 77 citations

A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis

1977 • 76 citations

Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case.

1977 • 69 citations

Induction of swelling of liver mitochondria by fatty acids of various chain length

1963 • 62 citations

Lipid storage myopathy, ichthyosis, and steatorrhea

1979 • 61 citations

Systemic carnitine deficiency

1978 • 58 citations

Induction of swelling of liver mitochondria by fatty acids of various chain length

1963 • 57 citations

POSSIBLE CAUSES AND EFFECTS OF CARNITINE DEFICIENCY IN MAN

1980 • 55 citations

Morphological features in a neutral lipid storage disease.

1975 • 45 citations

Muscle carnitine deficiency

1979 • 42 citations

Carnitine levels in normal children and adults and in patients with diseased muscle

1980 • 42 citations

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

1978 • 39 citations

MYOPATHY ASSOCIATED WITH PIGMENTATION FOLLOWING ADRENALECTOMY FOR CUSHING'S SYNDROME

1968 • 37 citations

A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

1975 • 34 citations

Neuromuscular Disorders with Abnormal Muscle Mitochondria

1980 • 33 citations

The Syndrome of Carnitine Deficiency: Morphological and Metabolic Correlations in Two Cases

1978 • 32 citations

Familial carnitine deficiency

1979 • 30 citations

Carnitine “deficiency”

1980 • 30 citations

Lipid storage myopathy with normal carnitine levels

1975 • 29 citations

The incidence of lipid droplets in human skeletal muscle in neuromuscular disorders: A histochemical, electron‐microscopic and freeze‐etch study

1972 • 25 citations

In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency

1980 • 23 citations

Lipid storage myopathies

1976 • 21 citations

Sudanophile (mitochondriale) Myopathie

1974 • 18 citations

Ultrastructural features of intracellular lipid in normal human muscle

1967 • 17 citations

Klinische, morphologische und biochemische Befunde bei Carnitinmangelmyopathien

1979 • 17 citations

Experimental lipid storage myopathy

1978 • 12 citations

Fatal lipid storage myopathy in an infant

1979 • 6 citations

[Sudanophilic (mitochondria) myopathy (author's transl)].

1974 • 6 citations

Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy

1980 • 6 citations

Muscular carnitine synthesis and palmitate metabolism in vitro

1978 • 5 citations