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Search Results - Mooyer, Petra A. W.
Search Results - Mooyer, Petra A. W.
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Clinical and biochemical spectrum of D-bifunctional protein deficiency
by
Ferdinandusse, Sacha
,
Denis, Simone
,
Mooyer, Petra A. W.
,
Dekker, Conny
,
Duran, Marinus
,
Soorani-Lunsing, Roelineke J.
,
Boltshauser, Eugen
,
Macaya, Alfons
,
Gärtner, Jutta
,
Majoie, Charles B. L. M.
,
Barth, Peter G.
,
Wanders, Ronald J. A.
,
Poll-The, Bwee Tien
Published in
Annals of neurology
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Plasmalogens participate in very-long-chain fatty acid-induced pathology
by
Brites, Pedro
,
Mooyer, Petra A. W.
,
el Mrabet, Leila
,
Waterham, Hans R.
,
Wanders, Ronald J. A.
Published in
Brain (London, England : 1878)
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A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis
by
Fourcade, Stephane
,
Ruiz, Montserrat
,
Camps, Carme
,
Schluter, Agatha
,
Houten, Sander M
,
Mooyer, Petra A. W
,
Pampols, Teresa
,
Dacremont, Georges
,
Wanders, Ronald J. A
,
Giros, Marisa
,
Pujol, Aurora
Published in
American journal of physiology: endocrinology and metabolism
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Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
by
McMillan, Hugh J
,
Worthylake, Thea
,
Schwartzentruber, Jeremy
,
Gottlieb, Chloe C
,
Lawrence, Sarah E
,
Mackenzie, Alex
,
Beaulieu, Chandree L
,
Mooyer, Petra A W
,
Wanders, Ronald J A
,
Majewski, Jacek
,
Bulman, Dennis E
,
Geraghty, Michael T
,
Ferdinandusse, Sacha
,
Boycott, Kym M
Published in
Orphanet journal of rare diseases
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Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene
by
van de Stadt, Stephanie I W
,
Mooyer, Petra A W
,
Dijkstra, Inge M E
,
Dekker, Conny J M
,
Vats, Divya
,
Vera, Moin
,
Ruzhnikov, Maura R Z
,
van Haren, Keith
,
Tang, Nelson
,
Koop, Klaas
,
Willemsen, Michel A
,
Hui, Joannie
,
Vaz, Frédéric M
,
Ebberink, Merel S
,
Engelen, Marc
,
Kemp, Stephan
,
Ferdinandusse, Sacha
Published in
Genes
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Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata
by
Brites, Pedro
,
Motley, Alison M.
,
Gressens, Pierre
,
Mooyer, Petra A.W.
,
Ploegaert, Ingrid
,
Everts, Vincent
,
Evrard, Philippe
,
Carmeliet, Peter
,
Dewerchin, Mieke
,
Schoonjans, Luc
,
Duran, Marinus
,
Waterham, Hans R.
,
Wanders, Ronald J.A.
,
Baes, Myriam
Published in
Human molecular genetics
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Method for measurement of peroxisomal very-long-chain fatty acid β-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid
by
KEMP, Stephan
,
VALIANPOUR, Fredoen
,
MOOYER, Petra A. W
,
KULIK, Willem
,
WANDERS, Ronald J. A
Published in
Clinical chemistry (Baltimore, Md.)
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Specific combination of compound heterozygous mutations in 17[beta]-hydroxysteroid dehydrogenase type 4 defines a new subtype of D-bifunctional protein deficiency
by
McMillan, Hugh J
,
Worthylake, Thea
,
Schwartzentruber, Jeremy
,
Gottlieb, Chloe C
,
Lawrence, Sarah E
,
MacKenzie, Alex
,
Beaulieu, Chandree L
,
Mooyer, Petra A W
,
,
Wanders, Ronald J A
,
Majewski, Jacek
,
Bulman, Dennis E
,
Geraghty, Michael T
,
Ferdinandusse, Sacha
,
Boycott, Kym M
Published in
Orphanet journal of rare diseases
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A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis
by
FOURCADE, Stéphane
,
RUIZ, Montserrat
,
PUJOL, Aurora
,
CAMPS, Carme
,
SCHLÜTER, Agatha
,
HOUTEN, Sander M
,
MOOYER, Petra A. W
,
PHMPOLS, Teresa
,
DACREMONT, Georges
,
WANDERS, Ronald J. A
,
GIROS, Marisa
Published in
American journal of physiology: endocrinology and metabolism
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Method for Measurement of Peroxisomal Very-Long-Chain Fatty Acid β-Oxidation in Human Skin Fibroblasts Using Stable-Isotope-Labeled Tetracosanoic Acid
by
Kemp, Stephan
,
Valianpour, Fredoen
,
Mooyer, Petra A W
,
Kulik, Willem
,
Wanders, Ronald J A
Published in
Clinical chemistry (Baltimore, Md.)
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