(Q68484614)

English

Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia

scientific article published on 01 January 1990

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

1 reference

based on heuristic

inferred from title

author name string

G F Hoffmann

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

D H Hunneman

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

C Jakobs

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

E Wilichowski

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

S W Eber

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

F Hanefeld

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

D Rating

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

H Reichmann

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

publication date

1 January 1990

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

13

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

337-340

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

https://scigraph.springernature.com/pub.10.1007/bf01799389

0 references

Deletion of blood mitochondrial DNA in pancytopenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2172644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2172644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymes of fatty acid beta-oxidation in developing brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/2172644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness

1 reference

https://pubmed.ncbi.nlm.nih.gov/2172644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2172644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/2172644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01799389

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2172644%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

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