The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype (Q41928288)

14 October 2017

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype (English)

1 reference

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

14 October 2017

corrigendum / erratum

1 reference

10.1007/S10545-015-9868-Y

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1007/S10545-015-9868-Y

author

Matthias R Baumgartner

13

1 reference

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9 June 2020

Tomáš Honzík

30

1 reference

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9 June 2020

Jolanta Sykut-Cegielska

4

1 reference

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9 June 2020

Jiri Zeman

7

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9 June 2020

Carlo Dionisi-Vici

8

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9 June 2020

Javier Blasco-Alonso

14

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Malene B. Rasmussen

16

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María L Couce

22

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Johannes Häberle

34

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Chris Mühlhausen

40

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Guillem Pintos-Morell

45

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Luis Peña-Quintana

46

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Etienne Sokal

50

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Marshall Summar

51

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9 June 2020

Allan M Lund

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9 June 2020

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Sabine Scholl-Bürgi

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9 June 2020

28

Wanda Gradowska

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9 June 2020

author name string

Stefan Kölker

1

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9 June 2020

Alberto B Burlina

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Frits A Wijburg

5

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Elisa Leão Teles

6

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9 June 2020

Ivo Barić

9

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9 June 2020

Daniela Karall

10

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9 June 2020

Jean-Baptiste Arnoux

11

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Paula Avram

12

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9 June 2020

S P Nikolas Boy

15

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9 June 2020

Peter Burgard

17

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9 June 2020

Brigitte Chabrol

18

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9 June 2020

Anupam Chakrapani

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Kimberly Chapman

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9 June 2020

Elisenda Cortès I Saladelafont

21

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Linda de Meirleir

23

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Dries Dobbelaere

24

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9 June 2020

Francesca Furlan

25

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9 June 2020

Florian Gleich

26

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9 June 2020

Maria Julieta González

27

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Stephanie Grünewald

29

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Friederike Hörster

31

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Hariklea Ioannou

32

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Anil Jalan

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Gisela Haege

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Eveline Langereis

36

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Pascale de Lonlay

37

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Diego Martinelli

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Shirou Matsumoto

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Carlos Ortez

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Consuelo C Pedrón

44

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Esmeralda Rodrigues

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Roshni Vara

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Inmaculada Vives Pinera

54

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John H Walter

55

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Monique Williams

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Angeles Garcia-Cazorla

58

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Vassili Valayannopoulos

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47

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9 June 2020

publication date

15 April 2015

1 reference

Journal of Inherited Metabolic Disease

14 October 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875216%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

38

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9 June 2020

page(s)

1059-1074

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9 June 2020

issue

6

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https://scigraph.springernature.com/pub.10.1007/s10545-015-9840-x

9 June 2020

exact match

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21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9840-X

Late onset optic neuropathy in methylmalonic and propionic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9840-X

Histopathological findings in livers of patients with urea cycle disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9840-X

Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9840-X

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

The LMS method for constructing normalized growth standards

1 reference

12 December 2020

Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.

1 reference

12 December 2020

Pathophysiology of brain dysfunction in hyperammonemic syndromes: The many faces of glutamine

1 reference

12 December 2020

Structure of the blood-brain barrier and its role in the transport of amino acids

1 reference

12 December 2020

Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism.

1 reference

12 December 2020

Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life

1 reference

12 December 2020

Subacute bilateral visual loss in methylmalonic acidemia

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

Cardiac disease in methylmalonic acidemia

1 reference

12 December 2020

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.

1 reference

12 December 2020

Glutaric aciduria; A “new” disorder of amino acid metabolism

1 reference

12 December 2020

Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity

1 reference

12 December 2020

Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I

1 reference

12 December 2020