(Q70336476)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7075630%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7075630%20AND%20SRC:MED&resulttype=core&format=json

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

10 October 2019

main subject

0 references

1 reference

D Leupold

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7075630%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

M Bojasch

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7075630%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

C Jakobs

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7075630%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

publication date

1 February 1982

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7075630%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

10 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7075630%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

volume

138

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7075630%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

page(s)

73-76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7075630%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7075630%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00442334

10 October 2019

exact match

0 references

cites work

Maple syrup urine disease

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

[Non-ketotic hyperglycinaemia. Clinical treatment, diet, and pathologico-anatomic changes (author's transl)]

1 reference

12 December 2020

[The chemical mechanism of acetic acid formation in the liver.]

1 reference

12 December 2020

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

1 reference

12 December 2020

Patient with Defect in Leucine Metabolism

1 reference

12 December 2020

Biotin-responsive beta-methylcrotonylglycinuria

1 reference

12 December 2020

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

1 reference

12 December 2020

Isovaleric acidemia: a new genetic defect of leucine metabolism

1 reference

12 December 2020

Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00442334

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7075630%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

1 reference