E-LIB Suche - Ergebnisse für: Wanders, Ronald JA

1

Vision on gyrate atrophy: why treat the eye?:

Bergen, Arthur A ; Buijs, Mark JN ; ten Asbroek, Anneloor LMA...
EMBO Molecular Medicine. 16 (2023) 1 - p. 4-7 , 2023

2

Toshiyuki Fukao:

Mitchell, Grant A. ; Sasai, Hideo ; Bastin, Jean...
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1392-1392 , 2020

Link: https://doi.org/10.1002/..

3

Mutations inTIMM50cause severe mitochondrial dysfunction by..:

Tort, Frederic ; Ugarteburu, Olatz ; Texidó, Laura...
Human Mutation. 40 (2019) 10 - p. 1700-1712 , 2019

Link: https://doi.org/10.1002/..

4

Drug-induced effects on urea cycle enzymes associate with a..:

Moedas, Marco F ; Farelo, Mafalda ; Caio, João...
Free Radical Biology and Medicine. 120 (2018) - p. S108 , 2018

Link: https://doi.org/10.1016/..

5

Cardiac‐specific succinate dehydrogenase deficiency in Bart..:

Dudek, Jan ; Cheng, I‐Fen ; Chowdhury, Arpita...
EMBO Molecular Medicine. 8 (2015) 2 - p. 139-154 , 2015

Link: https://doi.org/10.15252..

6

Genetic basis of hyperlysinemia:

Houten, Sander M ; te Brinke, Heleen ; Denis, Simone...
Orphanet Journal of Rare Diseases. 8 (2013) 1 - p. 57 , 2013

Link: https://doi.org/10.1186/..

7

An algorithm to predict phenotypic severity in mucopolysacc..:

Kingma, Sandra DK ; Langereis, Eveline J ; de Klerk, Clasine M...
Orphanet Journal of Rare Diseases. 8 (2013) 1 - p. , 2013

Link: https://doi.org/10.1186/..

8

Mutations in ALDH6A1 encoding methylmalonate semialdehyde d..:

Marcadier, Julien L ; Smith, Amanda M ; Pohl, Daniela...
Orphanet Journal of Rare Diseases. 8 (2013) 1 - p. 98 , 2013

Link: https://doi.org/10.1186/..

9

HIBCH mutations can cause Leigh-like disease with combined ..:

Ferdinandusse, Sacha ; Waterham, Hans R ; Heales, Simon JR...
Orphanet Journal of Rare Diseases. 8 (2013) 1 - p. , 2013

Link: https://doi.org/10.1186/..

10

X-linked adrenoleukodystrophy (X-ALD): clinical presentatio..:

Engelen, Marc ; Kemp, Stephan ; de Visser, Marianne...
Orphanet Journal of Rare Diseases. 7 (2012) 1 - p. 51 , 2012

Link: https://doi.org/10.1186/..

11

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revis..:

Bosch, Annet M ; Stroek, Kevin ; Abeling, Nico G...
Orphanet Journal of Rare Diseases. 7 (2012) 1 - p. 83 , 2012

Link: https://doi.org/10.1186/..

12

Mammalian peroxisomal ABC transporters: from endogenous sub..:

Kemp, Stephan ; Theodoulou, Frederica L ; Wanders, Ronald JA
British Journal of Pharmacology. 164 (2011) 7 - p. 1753-1766 , 2011

Link: https://doi.org/10.1111/..

13

Mutations in PEX10 are a cause of autosomal recessive ataxi:

Régal, Luc ; S, Merel ; Goemans, Nathalie...
Annals of Neurology. , 2010

Link: https://doi.org/10.1002/..

14

A novel mutation of the ACADM gene (c.145C>G) associated wi..:

Dessein, Anne-Frédérique ; Fontaine, Monique ; Andresen, Brage S...
Orphanet Journal of Rare Diseases. 5 (2010) 1 - p. , 2010

Link: https://doi.org/10.1186/..

15

Primary Hyperoxaluria Remains Undiagnosed in Patients with ..:

Duran, Marinus ; Janssen, Marcel JW ; Wanders, Ronald JA...
Clinical Chemistry. 53 (2007) 8 - p. 1553-1555 , 2007

Link: https://doi.org/10.1373/..