Search Results - "Mooijer, Petra A W"

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder by Ebberink, Merel S., Mooijer, Petra A.W., Gootjes, Jeannette, Koster, Janet, Wanders, Ronald J.A., Waterham, Hans R.

“…The autosomal recessive Zellweger syndrome spectrum (ZSS) disorders comprise a main subgroup of the peroxisome biogenesis disorders and can be caused by…”
Get full text

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene by Ebberink, Merel S, Csanyi, Barbara, Chong, Wui K, Denis, Simone, Sharp, Peter, Mooijer, Petra A W, Dekker, Conny J M, Spooner, Claire, Ngu, Lock H, De Sousa, Carlos, Wanders, Ronald J A, Fietz, Michael J, Clayton, Peter T, Waterham, Hans R, Ferdinandusse, Sacha

“…Zellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different PEX genes. This includes PEX16, which encodes an integral…”
Get more information

A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents by Raas-Rothschild, Annick, Wanders, Ronald J.A., Mooijer, Petra A.W., Gootjes, Jeannette, Waterham, Hans R., Gutman, Alisa, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Kondo, Naomi, Eshel, Gideon, Espeel, Marc, Roels, Frank, Korman, Stanley H.

“…Sensorineural deafness and retinitis pigmentosa (RP) are the hallmarks of Usher syndrome (USH) but are also prominent features in peroxisomal biogenesis…”
Get full text

Biochemical markers predicting survival in peroxisome biogenesis disorders by Gootjes, Jeannette, Mooijer, Petra A W, Dekker, Conny, Barth, Peter G, Poll-The, Bwee Tien, Waterham, Hans R, Wanders, Ronald J A

Get more information

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism by Gootjes, Jeannette, Schmohl, Frank, Mooijer, Petra A W, Dekker, Conny, Mandel, Hanna, Topcu, Meral, Huemer, Martina, Von Schütz, M, Marquardt, Thorsten, Smeitink, Jan A, Waterham, Hans R, Wanders, Ronald J A

“…The peroxisome biogenesis disorders (PBDs), which comprise Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and infantile Refsum disease (IRD),…”
Get full text

A novel cell model to study the function of the adrenoleukodystrophy-related protein by Gueugnon, Fabien, Volodina, Natalia, Taouil, Jaoued Et, Lopez, Tatiana E., Gondcaille, Catherine, Grand, Anabelle Sequeira-Le, Mooijer, Petra A.W., Kemp, Stephan, Wanders, Ronald J.A., Savary, Stéphane

“…X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder due to mutations in the ABCD1 ( ALD) gene. ALDRP, the closest homolog of ALDP, has been…”
Get full text

Enoyl-CoA Hydratase Deficiency: Identification of a New Type of D-Bifunctional Protein Deficiency by van Grunsven, Elisabeth G., Mooijer, Petra A. W., Aubourg, Patrick, Wanders, Ronald J. A.

“…D-bifunctional protein is involved in the peroxisomal β-oxidation of very long chain fatty acids, branched chain fatty acids and bile acid intermediates. In…”
Get full text

Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver by Gootjes, Jeannette, Mandel, Hanna, Mooijer, Petra A W, Roels, Frank, Waterham, Hans R, Wanders, Ronald J A

Get more information