(Q37254022)

19 August 2017

1 reference

title

Organic acidurias: a review. Part 1. (English)

1 reference

19 August 2017

P T Ozand

1

1 reference

PubMed ID

1875022

19 August 2017

G G Gascon

series ordinal

2

1 reference

19 August 2017

1 July 1991

1 reference

Journal of Child Neurology

19 August 2017

1 reference

19 August 2017

6

1 reference

19 August 2017

196-219

1 reference

19 August 2017

3

1 reference

Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism.

19 August 2017

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Isovaleric acidemia: a new genetic defect of leucine metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Propionicacidemia, a New Inborn Error of Metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and β-Hydroxyglutarate: Explanation of the symptoms in glutaric aciduria?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Glutaric aciduria: biochemical and morphologic considerations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Regulation of hepatic fatty acid oxidation and ketone body production

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Disorders of the pyruvate dehydrogenase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

The mitochondrial genome--breaking the magic circle

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Gene-Protein Relationships of the -Keto Acid Dehydrogenase Complexes of Escherichia coli K12: Chromosomal Location of the Lipoamide Dehydrogenase Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Excretion of cis- and trans-4-hydroxycyclohexylacetic acid in addition to hawkinsin in a family with a postulated defect of 4-hydroxyphenylpyruvate dioxygenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Aspartoacylase deficiency and Canavan disease in Saudi Arabia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

The management and long term outcome of organic acidaemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

A defect in pyruvate decarboxylase in a child with an intermittent movement disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Hydroqnnethylglutaryl CoA lyase deficiency: Features resembling Reye syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Homocystinuria with methylmalonic aciduria: Two cases in a sibship

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Inherited 3-methylglutaconic aciduria in two brothers—Another defect of leucine metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-o

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Succinic semialdehyde dehydrogenase deficiency--a further case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Pyroglutamic aciduria--a new inborn error of metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria).

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Methylmalonic Aciduria without Vitamin B12Deficiency in an Adult Sibship

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Lactic acidosis due to pyruvate carboxylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

The Natural History of the Inherited Methylmalonic Acidemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Reincarnation in cultured muscle of mitochondrial abnormalities. Two patients with epilepsy and lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Maternally inherited mitochondrial myopathy and myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Recurrent Hypoglycemia Associated with Glutaric Aciduria Type II in an Adult

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Mitochondrial phosphoenolpyruvate carboxykinase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Neonatal 5-oxoprolinuria: difficult-to-diagnose?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Biochemical investigations on a patient with a defect in cytosolic acetoacetyl‐CoA thiolase, associated with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Oxidative damage to neutrophils in glutathione synthetase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Isovaleric acidemia: medical and neurodevelopmental effects of long-term therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Beta-methylcrotonic aciduria associated with lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Inherited disorders of 3-methylcrotonyl CoA carboxylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

3-Ketothiolase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Propionic acidemia: a clinical update

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Human Propionyl CoA Carboxylase: Some Properties of the Partially Purified Enzyme in Fibroblasts from Controls and Patients with Propionic Acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Propionic acidemia in patients with ketotic hyperglycinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Biotin-responsive propionicacidaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Biotinidase deficiency: a novel vitamin recycling defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Biotin-responsive alopecia and developmental regression

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Pathologic changes in a rabbit model of Reye's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect. A cause of hypoglycemia in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Intermittently Progressive Dyskinetic Syndrome in Glutaric Aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Glutaric aciduria: clinical and laboratory findings in two brothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: responses to dichloroacetate and benzoate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in subacute necrotizing encephalomyelopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (leigh disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Two cases of phosphoenolpyruvate carboxykinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

GLUCONEOGENESIS IN INFANCY AND CHILDHOOD III. Deficiency of the Extramitochondrial Form of Hepatic Phosphoenolpyruvate Carboxykinase in a Case of Persistent Neonatal Hypoglycaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Cytochrome c oxidase deficiency in Leigh syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Mitochondrial encephalopathy, lactic acidosis, and strokelike syndrome (MELAS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Pyroglutamic aciduria. Studies in an infant with chronic metabolic acidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Glycerol intolerance in a child with intermittent hypoglycemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Acetyl-CoA Carboxylase Deficiency: An Inborn Error of de Novo Fatty Acid Synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

Glutaric aciduria type I presenting with hypoglycaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389100600302

10.1177/088307389100600302

21 January 2018

Identifiers

DOI

1 reference

19 August 2017

1 reference

PubMed ID

1875022