(Q77835219)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

title

Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

author name string

L C Sniderman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

M Lambert

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

R Giguère

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

C Auray-Blais

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

B Lemieux

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

R Laframboise

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

D S Rosenblatt

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

E P Treacy

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

language of work or name

English

0 references

publication date

1 June 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

8 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

volume

134

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

page(s)

675-680

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

Long-term follow-up of 77 patients with isolated methylmalonic acidaemia

8 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

The management and outcome of propionic and methylmalonic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Neurological outcome of methylmalonic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Mutations inmut methylmalonic acidemia: Clinical and enzymatic correlations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Ketoacidotic crisis as a presentation of mild ("benign") methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Benign methylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Cobalamin Binding and Cobalamin-Dependent Enzyme Activity in Normal and Mutant Human Fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Renal tubular dysfunction in methylmalonic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Pancreatitis in patients with organic acidemias

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Increased urine methylmalonic acid excretion in infants with apnoeas.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings — a new recessive syndrome?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970280-5

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(99)70280-5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10356133%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference