(Q82770065)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22134541%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Propionic acidemia: neonatal versus selective metabolic screening (English)

1 reference

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17 January 2020

1 reference

S C Grünert

1

1 reference

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17 January 2020

S Müllerleile

2

1 reference

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17 January 2020

L de Silva

3

1 reference

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17 January 2020

M Barth

4

1 reference

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17 January 2020

M Walter

5

1 reference

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17 January 2020

K Walter

6

1 reference

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17 January 2020

T Meissner

7

1 reference

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17 January 2020

M Lindner

8

1 reference

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17 January 2020

R Ensenauer

9

1 reference

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17 January 2020

R Santer

10

1 reference

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17 January 2020

O A Bodamer

11

1 reference

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17 January 2020

M Brunner-Krainz

13

1 reference

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17 January 2020

D Karall

14

1 reference

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17 January 2020

C Haase

15

1 reference

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17 January 2020

I Knerr

16

1 reference

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17 January 2020

T Marquardt

17

1 reference

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17 January 2020

J B Hennermann

18

1 reference

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17 January 2020

R Steinfeld

19

1 reference

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17 January 2020

S Beblo

20

1 reference

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17 January 2020

H G Koch

21

1 reference

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17 January 2020

V Konstantopoulou

22

1 reference

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17 January 2020

A van Teeffelen-Heithoff

24

1 reference

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17 January 2020

T Suormala

25

1 reference

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17 January 2020

W Sperl

26

1 reference

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17 January 2020

J P Kraus

27

1 reference

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17 January 2020

A Superti-Furga

28

1 reference

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17 January 2020

K O Schwab

29

1 reference

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17 January 2020

J O Sass

30

1 reference

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17 January 2020

publication date

2 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22134541%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

17 January 2020

published in

1 reference

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17 January 2020

volume

35

1 reference

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17 January 2020

issue

1

1 reference

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17 January 2020

page(s)

41-49

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10545-011-9419-0

17 January 2020

exact match

0 references

cites work

Propionic acidemia revisited: a workshop report

1 reference

12 December 2020

Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients

1 reference

12 December 2020

Auxiliary liver transplantation for propionic acidemia: a 10-year follow-up.

1 reference

12 December 2020

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

1 reference

12 December 2020

Living-donor liver transplantation for propionic acidaemia

1 reference

12 December 2020

Newborn screening: toward a uniform screening panel and system--executive summary

1 reference

12 December 2020

Neurologic outcome of propionic acidemia

1 reference

12 December 2020

Clinical outcome and long-term management of 17 patients with propionic acidaemia.

1 reference

12 December 2020

Asymptomatic propionyl CoA carboxylase deficiency in a 13-year-old girl

1 reference

12 December 2020

Methylmalonic and propionic acidaemias: management and outcome

1 reference

12 December 2020

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia

1 reference

12 December 2020

Propionic acidemia: a clinical update

1 reference

12 December 2020

Expanded newborn screening in Europe 2007

1 reference

12 December 2020

Fatty acid oxidation disorders: outcome and long-term prognosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation analysis in 54 propionic acidemia patients

1 reference

12 December 2020

Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management.

1 reference

12 December 2020

Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.

1 reference

12 December 2020

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

1 reference

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.

1 reference

12 December 2020

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

1 reference

12 December 2020