(Q48229176)

9 February 2018

title

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. (English)

1 reference

9 February 2018

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

corrigendum / erratum

1 reference

10.1007/S10545-015-9867-Z

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1007/S10545-015-9867-Z

author

Matthias R Baumgartner

17

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9 February 2018

Matthias R Baumgartner

18

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9 February 2018

Marshall Summar

50

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9 February 2018

Chris Mühlhausen

Chris Mühlhausen

41

0 references

Javier Blasco-Alonso

Javier Blasco-Alonso

19

0 references

Robin Lachmann

Robin Lachmann

35

0 references

Carlo Dionisi-Vici

Carlo Dionisi-Vici

10

0 references

Etienne Sokal

Etienne Sokal

48

0 references

Jiri Zeman

Jiri Zeman

9

0 references

Vassili Valayannopoulos

3

Vassili Valayannopoulos

1 reference

Persephone Augoustides-Savvopoulou

9 February 2018

13

Persephone Augoustides-Savvopoulou

1 reference

Danijela Petković Ramadža

9 February 2018

45

Danijela Petković Ramadža

1 reference

9 February 2018

Hélène Ogier de Baulny

42

Hélène Ogier de Baulny

1 reference

9 February 2018

Jolanta Sykut-Cegielska

6

Jolanta Sykut-Cegielska

1 reference

9 February 2018

Allan M Lund

4

0 references

Sabine Scholl-Bürgi

47

Sabine Scholl-Bürgi

1 reference

9 February 2018

Wanda Gradowska

30

Wanda Gradowska

1 reference

9 February 2018

author name string

Stefan Kölker

1

1 reference

9 February 2018

Angeles Garcia-Cazorla

2

1 reference

9 February 2018

Alberto B Burlina

5

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9 February 2018

Frits A Wijburg

7

1 reference

9 February 2018

Elisa Leão Teles

8

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9 February 2018

Ivo Barić

11

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9 February 2018

Daniela Karall

12

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9 February 2018

Lise Aksglaede

14

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9 February 2018

Jean-Baptiste Arnoux

15

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9 February 2018

Paula Avram

16

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9 February 2018

Brigitte Chabrol

20

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9 February 2018

Anupam Chakrapani

21

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9 February 2018

Kimberly Chapman

22

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9 February 2018

Elisenda Cortès I Saladelafont

23

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9 February 2018

Maria L Couce

24

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9 February 2018

Linda de Meirleir

25

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9 February 2018

Dries Dobbelaere

26

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9 February 2018

Veronika Dvorakova

27

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9 February 2018

Francesca Furlan

28

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9 February 2018

Florian Gleich

29

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9 February 2018

Stephanie Grünewald

31

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9 February 2018

Anil Jalan

32

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9 February 2018

Johannes Häberle

33

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9 February 2018

Gisela Haege

34

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9 February 2018

Alexander Laemmle

36

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9 February 2018

Eveline Langereis

37

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9 February 2018

Pascale de Lonlay

38

1 reference

9 February 2018

Diego Martinelli

39

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9 February 2018

Shirou Matsumoto

40

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9 February 2018

Carlos Ortez

43

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9 February 2018

Luis Peña-Quintana

44

1 reference

9 February 2018

Esmeralda Rodrigues

46

1 reference

9 February 2018

Christian Staufner

49

1 reference

9 February 2018

Nicholas Thompson

51

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9 February 2018

Roshni Vara

52

1 reference

9 February 2018

Inmaculada Vives Pinera

53

1 reference

9 February 2018

John H Walter

54

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9 February 2018

Monique Williams

55

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9 February 2018

Peter Burgard

56

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9 February 2018

publication date

15 April 2015

1 reference

9 February 2018

Journal of Inherited Metabolic Disease

published in

1 reference

9 February 2018

volume

38

1 reference

9 February 2018

page(s)

1041-1057

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9 February 2018

issue

6

1 reference

9 February 2018

https://scigraph.springernature.com/pub.10.1007/s10545-015-9839-3

exact match

0 references

cites work

Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

A longitudinal study of urea cycle disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Mitochondrial dysfunction in mut methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Acute management of propionic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Revised birth centiles for weight, length and head circumference in the UK-WHO growth charts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Novel insights into the development and maintenance of the blood-brain barrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Promoting health after gestational diabetes: a National Diabetes Education Program call to action

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Significant hepatic involvement in patients with ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Use of guidelines improves the neurological outcome in glutaric aciduria type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Long-term outcome and intervention of urea cycle disorders in Japan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Diagnosis and management of glutaric aciduria type I--revised recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

The impact of screening for propionic and methylmalonic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Racial differences in gestational weight gain and pregnancy-related hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Glutaric aciduria type 1 presenting with epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Ornithine transcarbamoylase deficiency presenting with acute liver failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Urea cycle defects: management and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Natural history of propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Glutaric aciduria type I and methylmalonic aciduria: simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

The incidence of urea cycle disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Chronic management and health supervision of individuals with propionic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Antenatal manifestations of mitochondrial disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9839-3

High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure

21 January 2018

1 reference

12 December 2020

Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity

1 reference

12 December 2020

The LMS method for constructing normalized growth standards

1 reference

12 December 2020

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

1 reference

12 December 2020

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria

1 reference

12 December 2020

Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?

1 reference

12 December 2020

Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism

1 reference

12 December 2020

Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency

1 reference

12 December 2020

10.1007/S10545-015-9839-3

Identifiers

DOI

1 reference

9 February 2018

1 reference

9 February 2018