Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program (Q77835219)

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8 December 2019

title

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

1 reference

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8 December 2019

author name string

L C Sniderman

1

1 reference

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8 December 2019

M Lambert

2

1 reference

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8 December 2019

R Giguère

3

1 reference

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8 December 2019

C Auray-Blais

4

1 reference

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8 December 2019

B Lemieux

5

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8 December 2019

R Laframboise

6

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8 December 2019

D S Rosenblatt

7

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8 December 2019

E P Treacy

8

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8 December 2019

language of work or name

English

0 references

publication date

1 June 1999

1 reference

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The Journal of Pediatrics

8 December 2019

published in

1 reference

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8 December 2019

volume

134

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8 December 2019

issue

6

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8 December 2019

page(s)

675-680

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

8 December 2019

cites work

1 reference

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The management and outcome of propionic and methylmalonic acidaemia

7 January 2021

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Neurological outcome of methylmalonic acidaemia

7 January 2021

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

7 January 2021

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

7 January 2021

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Mutations inmut methylmalonic acidemia: Clinical and enzymatic correlations

7 January 2021

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

7 January 2021

1 reference

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

7 January 2021

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Benign methylmalonic aciduria

7 January 2021

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Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

7 January 2021

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

7 January 2021

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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

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Renal tubular dysfunction in methylmalonic acidaemia

7 January 2021

1 reference

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

7 January 2021

1 reference

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Pancreatitis in patients with organic acidemias

7 January 2021

1 reference

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

7 January 2021

1 reference

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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

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Increased urine methylmalonic acid excretion in infants with apnoeas.

7 January 2021

1 reference

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

7 January 2021

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(99)70280-5

1 reference

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8 December 2019

1 reference