Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. (Q51929303)

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3 February 2020

title

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters (English)

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3 February 2020

author

Matthias R Baumgartner

20

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Sven Garbade

2

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3 February 2020

Carlo Dionisi-Vici

9

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author name string

F Hörster

1

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T Zwickler

3

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3 February 2020

H I Aydin

4

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O A Bodamer

5

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A B Burlina

6

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A M Das

7

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J B C De Klerk

8

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S Geb

10

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G Gökcay

11

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N Guffon

12

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E M Maier

13

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E Morava

14

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J H Walter

15

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B Schwahn

16

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F A Wijburg

17

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M Lindner

18

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S Grünewald

19

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S Kölker

21

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publication date

31 July 2009

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Journal of Inherited Metabolic Disease

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published in

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volume

32

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issue

5

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page(s)

630

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The impact of screening for propionic and methylmalonic acidaemia

3 February 2020

cites work

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany

1 reference

12 December 2020

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

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12 December 2020

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

12 December 2020

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations

1 reference

12 December 2020

Neurological outcome of methylmalonic acidaemia

1 reference

12 December 2020

Methylmalonic and propionic aciduria

1 reference

12 December 2020

Methylmalonic acidaemia due to mutase apoenzyme defect: Responsive to vitamin B 12 in intact fibroblasts but not in vivo

1 reference

12 December 2020

Methylmalonic and propionic acidaemias: management and outcome

1 reference

12 December 2020

Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination

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12 December 2020

The Natural History of the Inherited Methylmalonic Acidemias

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12 December 2020

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

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12 December 2020

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

1 reference

12 December 2020

Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.

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12 December 2020

Causes of and diagnostic approach to methylmalonic acidurias.

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12 December 2020

Gene identification for the cblD defect of vitamin B12 metabolism

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12 December 2020

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

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12 December 2020

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

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12 December 2020

10.1007/S10545-009-1189-6

Identifiers

DOI

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