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Mitochondria And Disease

E. Carafoli, I. Roman
Published 1980 · Chemistry

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Hyperammonaemia Due to Ornithine Transcarbamylase Deficiency
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Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.
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Platelet adhesiveness in von Willebrand's disease.
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Tbiamine-Triphosphate Deficiency in Subacute Necrotizing Encephalomyelopathy
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Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease.
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Mitochondrial antibodies in primary biliary cirrhosis. II. The complement fixing antigen as a component of mitochondrial inner membranes.
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OPTICAL DIFFRACTION STUDIES OF CRYSTALLINE STRUCTURES IN ELECTRON MICROGRAPHS
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Isolation and sucrose density gradient centrifugation of ribosomal and mitochondrial RNA from yeast.
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The ultrastructure of the osmeterium and the nature of its secretion in Papilio larvae (lepidoptera).
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Massive subendocardial damage accompanying prolonged ventricular fibrillation.
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The pancreas in kwashiorkor. An electron microscopic study.
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BIOCHEMICAL INVESTIGATIONS OF HYPERAMMONÆMIA
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Myocytolysis and mitochondrial calcification in rat myocardium after low doses of isoproterenol.
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Effect of Ethanol on Liver δ‐Aminolaevulinate Synthetase Activity and Urinary Porphyrin Excretion in Symptomatic Porphyria
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LIVER PARENCHYMAL CELL INJURY : VIII. Lesions of Membranous Cellular Components following Iodoform
David A. Sell (1969)
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Ultrastructural changes in the chondriome during perinatal development in brown adipose tissue of rats.
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Enzymatic conversion of vitamin B 12a to adenosyl-B 12: evidence for the existence of two separate reducing systems.
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Isolation and characterization of ribosomes from yeast mitochondria
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Vitamin B12 dependent methylmalonicaciduria: defective B12 metabolism in cultured fibroblasts.
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Mitochondrial cavitation and hypertrophy in rat adrenal cortex due to aminoglutethimide.
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Oxidative phosphorylation in acute hyperthermia.
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Peritoneal dialysis in the reduction of blood ammonia levels in a case of hyperammonaemia.
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A new experimental approach in the study of chronic alcoholism. IV. Reproduction of alcoholic cirrhosis in rats and the role of lipotropes versus vitamins.
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Ion movements in cell injury. Effect of amphotericin B on the ultrastructure and function of the epithelial cells of the toad bladder.
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A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria.
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Giant Hepatic Mitochondria: Production in Mice Fed with Cuprizone
K. Suzuki (1969)
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Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.
B. Levin (1969)
Mitochondrial organization in skeletal muscle of the rat soft palate.
C. R. Leeson (1969)
10.1126/science.164.3875.72
Cellulose: Refutation of a Folded-Chain Structure
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ON THE NATURE OF THE DENSE MATRIX GRANULES OF NORMAL MITOCHONDRIA
I. Pasquali-Ronchetti (1969)
10.1016/0005-2744(69)90141-7
Effect of lipid on protoheme ferro-lyase.
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Metabolic error of muscle metabolism after recovery from malignant hyperthermia.
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Metabolite transport in mitochondria: an example for intracellular membrane function.
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The role of the α-glycerophosphate shuttle in the reoxidation of cytosolic NADH in ehrlich ascites tumour cells
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Changes underlying Halothane-induced Malignant Hyperpyrexia in Landrace Pigs
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[Ultrastructural and biochemical changes in mitochondria of human myotomic muscles].
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Permeability properties of mitochondrial membranes and the regulation of haem biosynthesis.
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The History of the Tricarboxylic Acid Cycle
H. Krebs (1970)
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A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria.
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Deposits of granular material in mitochondria. Electron microscopic observations in neoplastic cells oa a malignant melanoma of the human uveal tract.
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Ultrastructure of oncocytoma of the parotid gland.
B. Tandler (1970)
10.1001/ARCHNEUR.1970.00480260009002
A cytochrome-related inherited disorder of the nervous system and muscle.
A. Spiro (1970)
10.1016/S0140-6736(70)91216-X
Localisation of enzymic defect in propionicacidaemia.
D. Gompertz (1970)
Sex-linked hyperammonemia: response to reduced dietary protein.
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A comparison of some ultrastructural and biochemical properties of mitochondria from Morris hepatomas 9618A, 7800, and 3924A.
P. Pedersen (1970)
10.1007/BF03004694
Malignant hyperthermia: A statistical review
B. Britt (1970)
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Mitochondrial ribosomal RNA from Aspergillus nidulans: characterization of a novel molecular species.
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J. Bowden (1970)
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A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.
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Biochemical defects in two types of human hepatic porphyria.
L. Kaufman (1970)
10.1001/ARCHNEUR.1970.00480290050006
Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase.
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A skeletal-muscle disorder associated with intermittent symptoms and a possible defect of lipid metabolism.
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CHAPTER 4 – δ-Aminolevulinic Acid Synthetase and the Control of Heme and Chlorophyll Synthesis*†
S. Granick (1971)
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Specific inhibition of mitochondrial Ca++ transport by ruthenium red.
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A study of Ca 2+ metabolism in kidney mitochondria during acute uranium intoxication.
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10.1016/S0140-6736(71)90605-2
A "new" disorder of isoleucine catabolism.
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Propionyl-CoA carboxylase deficiency (propionicacidemia): A cause of non-ketotic hyperglycinemia
Maurice J Mahonev (1971)
10.1016/0006-291X(71)90610-3
Defective metabolism of vitamin B 12 in fibroblasts from children with methylmalonicaciduria.
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10.1016/0005-2728(71)90145-9
Net movements of monovalent and bivalent cations, and their relation to energy metabolism, in slices of hepatoma 3924A and of a mammary tumour.
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10.1016/S0140-6736(71)90931-7
Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency.
A. G. Campbell (1971)
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INTRAMITOCHONDRIAL YOLK-CRYSTALS OF FROG OOCYTES I. Formation of Yolk-Crystal Inclusions by Mitochondria during Bullfrog Oogenesis
W. H. Massover (1971)
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PRISMATIC CRISTAE AND MATRIX GRANULES IN MITOCHONDRIA OF THE KIDNEYS OF AMMOCOETES
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Comparison of the mitochondrial membrane proteins in rat liver and hepatomas.
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Atypical cristae in mitochondria of human glioblastoma multiforme cells.
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Severe hypermetabolism with primary abnormality of skeletal muscle mitochondria.
N. A. Haydar (1971)
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The inhibition of pyruvate decarboxylation in rat brain by -ketoisocaproic acid.
J. Bowden (1971)
Congenital disorders of the urea cycle and ammonia detoxication.
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Interconversion and kinetic properties of pyruvate dehydrogenase from brain.
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Intramitochondrial yolk-crystals of frog oocytes. II. Expulsion of intramitochondrial yolk-crystals to form single-membrane bound hexagonal crystalloids.
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The pathway of glutamine and glutamate oxidation in isolated mitochondria from mammalian cells.
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Hereditary metabolic disorders of the urea cycle.
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Acute electron microscopic changes in myocardial cells induced by high doses of quinidine.
D. W. Hiott (1971)
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Synthesis of cobalamin coenzymes by human cells in tissue culture.
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HEPATIC δ-AMINOLÆVULINIC ACID SYNTHETASE IN AN ATTACK OF HEREDITARY COPROPORPHYRIA AND DURING REMISSION
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Intermittent ataxia with pyruvate-decarboxylase deficiency.
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Expression of the mitochondrial genome in HeLa cells. I. Properties of the discrete RNA components from the mitochondrial fraction.
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Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase.
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B. A. Britt (1971)
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Glycolysis, respiration, and anomalous gene expression in experimental hepatomas: G.H.A. Clowes memorial lecture.
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Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia.
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Pathogenesis of Leigh's encephalomyelopathy.
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A comparative study of cellular organelles of Morris hepatomas.
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The effect of ruthenium red on Ca 2+ transport and respiration in rat liver mitochondria.
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The role of glutamine in the oxidative metabolism of malignant cells.
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Prophyrin metabolism in experimental hepatic siderosis in the rat. II. Combined effect of iron overload and hexachlorobenzene.
J. Taljaard (1972)
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Lipid storage myopathy responsive to prednisone.
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Inheritance of malignant hyperpyrexia.
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Hyperammonemia due to a defect in hepatic ornithine transcarbamylase.
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Cytoplasmic Genes and Organelles
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Morphologic features of hypermetabolic mitochondrial disease. A light microscopic, histochemical and electron microscopic study.
A. Afifi (1972)
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Malignant Hyperthermia of Poland China Swine: Studies of a Myogenic Etiology
T. Nelson (1972)
10.1073/PNAS.69.10.2807
3-hydroxypropionate: significance of -oxidation of propionate in patients with propionic acidemia and methylmalonic acidemia.
T. Ando (1972)
An ultrastructural study of the effect of reserpine on ventricular cardiac muscle of active and hibernating bats (Myotis lucifugus).
M. Hagopian (1972)
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Progressive cerebral poliodystrophy – Alpers' disease
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Methylmalonyl Coenzyme A Racemase Defect: Another Cause of Methylmalonic Aciduria
E. Kang (1972)
10.1073/PNAS.69.4.847
Circular oligomers in mitochondrial DNA of human and beef nonmalignant thyroid glands.
C. Paoletti (1972)
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Excretion of propionylglycine in propionic acidaemia.
K. Rasmussen (1972)
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A case of carbamyl phosphate synthetase deficiency.
S. Arashima (1972)
10.1016/0024-3205(72)90075-6
Fatty acid oxidation by skeletal muscle mitochondria in Duchenne muscular dystrophy.
C. H. Lin (1972)
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NATURE OF THE PLATELET DEFECT IN THE WISKOTT‐ALDRICH SYNDROME *
M. Baldini (1972)
Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: a preliminary report.
J. Keating (1972)
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An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis.
J. Blass (1972)
10.1016/S0006-291X(73)80018-X
Some properties of coupled hepatoma mitochondria exhibiting uncoupler-insensitive ATPase activity.
J. Kolarov (1973)
The effects of immunization to L-asparaginase on antitumor and enzymatic activity.
A. I. Goldberg (1973)
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Studies on hepatic -aminolevulinic acid synthetase.
G. M. Patton (1973)
Regulatory mechanisms in carbohydrate metabolism. IX. Stimulation of aerobic glycolysis by energy-linked ion transport and inhibition by dextran sulfate.
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Lipid Composition of Subcellular Particles Isolated from Rat Liver and from Hepatomas
P. Pani (1973)
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Interaction of calcium with mitochondria isolated from Ehrlich ascites tumour cells.
R. F. Thorne (1973)
10.1126/science.182.4107.62
Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome
S. Goldfischer (1973)
10.1016/S0022-3476(73)80266-5
A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness.
T. Hackett (1973)
10.1016/S0140-6736(73)92996-6
Letter: Fluoride toxicity.
Godber Ge (1973)
10.1016/S0022-3476(73)80590-6
Ornithine transcarbamylase deficiency in the newborn infant.
E. Kang (1973)
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Ultrastructure of Morris renal tumors.
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10.1203/00006450-197303000-00007
An Inherited Disorder of Isoleucine Catabolism Causing Accumulation of α-Methylacetoacetate and α-Methyl-β-hydroxybutyrate, and Intermittent Metabolic Acidosis
R. Daum (1973)
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Ketone body oxidation by mouse hepatoma BW7756.
A. Fenselau (1973)
10.2527/JAS1973.373692X
Mitochondrial metabolism in stress-susceptible pigs.
G. Eikelenboom (1973)
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Kinetic properties of the partially purified pyruvate dehydrogenase complex of ox brain.
J. Blass (1973)
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Progressive ophthalmoplegia, glycogen storage, and abnormal mitochondria.
S. Dimauro (1973)
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Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria
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Effect of phenylpyruvate on enzymes involved in fatty acid synthesis in rat brain.
J. Land (1973)
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Further speculation on the pathogenesis of Leigh's encephalomyelopathy.
C. J. DE GROOT (1973)
10.1016/0022-510X(73)90090-7
Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 2. Biochemical findings.
M. Worsfold (1973)
10.1016/0014-5793(73)80199-1
Cholesterol and phospholipid composition of mitochondria and microsomes isolated from morris hepatoma 51 23 and rat liver
F. Feo (1973)
10.1016/0022-510X(73)90158-5
The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin.
G. Karpati (1973)
Energy-linked functions of tightly coupled mitochondria isolated from Ehrlich ascites tumor cells.
R. F. Thorne (1973)
10.1056/NEJM197301042880102
Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.
E. M. Short (1973)
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Mitochondrial Nucleic Acids
P. Borst (1973)
Enzymatic defects in hepatic porphyria. Preliminary observations in patients with porphyria cutanea tarda and variegate porphyria.
N. Pimstone (1973)
Further observations on the effects of trypsin on the volume and functions of mitochondria isolated from normal liver and AH-130 Yoshida ascites hepatoma.
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10.1056/NEJM197301042880101
Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.
A. G. Campbell (1973)
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Effect of phenylpyruvate on pyruvate dehydrogenase activity in rat brain mitochondria.
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Transport of ornithine and citrulline across the mitochondrial membrane.
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The role of mitochondria in modifying the cellular ionic environment. Calcium-induced respiratory activities in mitochondria isolated from various tumour cells.
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Differential effects of 2-oxo acids on pyruvate utilization and fatty acid synthesis in rat brain.
J. B. Clark (1974)
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On the mechanism of translocation of pyruvate and other monocarboxylic acids in rat-liver mitochondria.
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Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development.
Ira K. Brandt (1974)
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Regulation of heart muscle pyruvate dehydrogenase kinase.
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Prufication and properties of human liver pyruvate carboxylase.
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Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome".
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