(Q36599433)

15 August 2017

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients (English)

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15 August 2017

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28

Andrea Superti-Furga

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Sabine Scholl-Bürgi

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object named as

Sabine Scholl-Bürgi

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15 August 2017

14

Daniela Karall

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15 August 2017

Michaela Brunner-Krainz

13

object named as

Michaela Brunner-Krainz

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15 August 2017

17

Thorsten Marquardt

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15 August 2017

Sarah C Grünert

1

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15 August 2017

Stephanie Müllerleile

2

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15 August 2017

Linda De Silva

3

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15 August 2017

Michael Barth

4

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15 August 2017

Melanie Walter

5

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15 August 2017

Kerstin Walter

6

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15 August 2017

Thomas Meissner

7

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15 August 2017

Martin Lindner

8

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15 August 2017

Regina Ensenauer

9

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15 August 2017

René Santer

10

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15 August 2017

Olaf A Bodamer

11

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15 August 2017

Matthias R Baumgartner

12

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15 August 2017

Claudia Haase

15

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15 August 2017

Ina Knerr

16

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15 August 2017

Julia B Hennermann

18

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15 August 2017

Robert Steinfeld

19

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15 August 2017

Skadi Beblo

20

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15 August 2017

Hans-Georg Koch

21

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15 August 2017

Vassiliki Konstantopoulou

22

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15 August 2017

Agnes van Teeffelen-Heithoff

24

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15 August 2017

Terttu Suormala

25

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15 August 2017

Wolfgang Sperl

26

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15 August 2017

Jan P Kraus

27

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15 August 2017

Karl Otfried Schwab

29

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15 August 2017

Jörn Oliver Sass

30

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15 August 2017

10 January 2013

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Orphanet Journal of Rare Diseases

15 August 2017

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15 August 2017

8

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15 August 2017

6

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https://scigraph.springernature.com/pub.10.1186/1750-1172-8-6

15 August 2017

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cites work

Natural history of propionic acidemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Treatment of dwarfism with recombinant human insulin-like growth factor-1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Methylmalonic and propionic acidaemias: management and outcome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Pancreatitis in patients with organic acidemias

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

CT and MR of the brain in disorders of the propionate and methylmalonate metabolism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Propionic acidemia: a clinical update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Mutation analysis in 54 propionic acidemia patients

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Late onset optic neuropathy in methylmalonic and propionic acidemia

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?].

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Coincidence of long QT syndrome and propionic acidemia

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Tables for predicting adult height from skeletal age: revised for use with the Greulich-Pyle hand standards.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Optic nerve atrophy in propionic acidemia

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Propionic acidaemia presenting with pancytopaenia in infancy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568723

Propionic acidemia revisited: a workshop report

20 September 2018

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12 December 2020

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

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12 December 2020

Cardiomyopathy in propionic acidaemia

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12 December 2020

The testing and validation of the German version of the impact on family scale in families with children with disabilities

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12 December 2020

[Behavioural problems in children and adolescents. First results from the German Health Interview and Examination Survey for Children and Adolescents (KiGGS)]

1 reference

12 December 2020

Acute pancreatitis in propionic acidaemia

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12 December 2020

Neurologic outcome of propionic acidemia

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12 December 2020

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

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12 December 2020

Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro

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12 December 2020

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

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12 December 2020

[Normal values and evaluation of the German parents' version of Strengths and DIfficulties Questionnaire (SDQ): Results of a representative field study]

1 reference

12 December 2020

Propionic acidemia: neonatal versus selective metabolic screening

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12 December 2020

Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia

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12 December 2020

Adult-onset chorea and dementia with propionic acidemia

1 reference

12 December 2020

Cardiac arrest secondary to long QT(C )in a child with propionic acidemia

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-8-6

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Dimensions Publication ID

15 August 2017

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1 reference

15 August 2017

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