3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients (Q39555050)

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scientific article published on December 1988

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English	3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients	scientific article published on December 1988

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3063529

retrieved

13 September 2017

review article

1 reference

stated in

Europe PubMed Central

title

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

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Europe PubMed Central

PubMed publication ID

3063529

retrieved

13 September 2017

main subject

patient

0 references

meglutol

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ChEBI release 2020-05-28

ChEBI ID

16831

author name string

K M Gibson

series ordinal

1

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Europe PubMed Central

PubMed publication ID

3063529

retrieved

13 September 2017

J Breuer

series ordinal

2

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stated in

Europe PubMed Central

PubMed publication ID

3063529

retrieved

13 September 2017

W L Nyhan

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3063529

retrieved

13 September 2017

publication date

1 December 1988

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3063529

retrieved

13 September 2017

published in

European Journal of Pediatrics

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stated in

Europe PubMed Central

PubMed publication ID

3063529

retrieved

13 September 2017

volume

148

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Europe PubMed Central

PubMed publication ID

3063529

retrieved

13 September 2017

issue

3

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Europe PubMed Central

PubMed publication ID

3063529

retrieved

13 September 2017

page(s)

180-186

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Europe PubMed Central

PubMed publication ID

3063529

retrieved

13 September 2017

cites work

Idiopathic acute pancreatitis in children. Association with a clinical picture resembling Reye syndrome

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1007%2FBF00441397

retrieved

21 January 2018

Hydroqnnethylglutaryl CoA lyase deficiency: Features resembling Reye syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FBF00441397

retrieved

21 January 2018

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolism of leucine in fibroblasts from patients with deficiencies in each of the major catabolic enzymes: branched-chain ketoacid dehydrogenase, isovaleryl-CoA dehydrogenase, 3-methylcrotonyl-CoA carboxylase, 3-methylglutaconyl-CoA hydratase, and

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of the organic acidurias

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracellular localization of the 3-hydroxy-3-methylglutaryl coenzme A cycle enzymes in liver. Separate cytoplasmic and mitochondrial 3-hydroxy-3-methylglutaryl coenzyme A generating systems for cholesterogenesis and ketogenesis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaryl-coenzyme A lyase levels in leucocytes

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Methylcrotonylglycine excretion in 3-hydroxy-3-methylglutaric aciduria

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and biochemical observations on a child with a deficiency of 3‐hydroxy‐3‐methylglutaryl coenzyme a lyase

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of hyperammonemic coma caused by inborn errors of urea synthesis

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutarylcoenzyme A lyase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

L-Carnitine Insufficiency in Disorders of Organic acid Metabolism: Response to L-Carnitine by Patients with Methylmalonic Aciduria and 3-Hydroxy-3-methylglutaric Aciduria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organic acids and Reye's syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Photodiode array detection for liquid chromatographic profiling of carboxylic acids in physiological fluids: 3-hydroxy-3-methylglutaric aciduria.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-methylglutaric aciduria: deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pancreatitis and Reye's Syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Methylglutaconic aciduria in two infants

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency: Postnatal management following prenatal diagnosis by analysis of maternal urine

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperammonaemia and urinary organic acids

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Potential prenatal diagnosis of 3-hydroxy-3-methylglutaryl-Coenzyme A lyase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on the urinary acidic metabolites excreted by patients with β-methylcrotonylglycinuria, propionic acidaemia and methylmalonic acidaemia, using gas-liquid chromatography and mass spectrometry

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patient with Defect in Leucine Metabolism

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of "true" glucose production rates in infancy and childhood with 6,6-dideuteroglucose

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

beta-Hydroxy-beta-methyglutaricaciduria presenting as Reye's syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency. Follow-up of first described case

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-Methylglutaric Aciduria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gas-chromatographic/mass spectrometric detection of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in double first cousins

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-Hydroxy-3-Methylglutaric, 3-Methylglutaconic and 3-Methylglutaric Acids can be Non-specific Indicators of Metabolic Disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3-methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on a child suspected of having a deficiency in 3-hydroxy-3-methylglutaryl-CoA lyase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of 3-methylglutarylcarnitine. A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dizygotic twins with 3-hydroxy-3-methylglutaric aciduria; unusual presentation, family studies and dietary management

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3063529

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00441397

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3063529

retrieved

13 September 2017

PubMed publication ID

3063529

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3063529

retrieved

13 September 2017

 

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