Novel Subtype of Peroxisomal Acyl-CoA Oxidase Deficiency and Bifunctional Enzyme Deficiency with Detectable Enzyme Protein: Identification by Means of Complementation Analysis

Por Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Yajima, Shigehiro, Tomatsu, Shunji, Kondo, Naomi, Nakada, Yukikatsu, Akaboshi, Shinjiro, Iai, Mizue, Tanabe, Yuzo, Hashimoto, Takashi, Wanders, Ronald J. A., Schutgens, Ruud B. H., Moser, Hugo W., Orii, Tadao
Publicado em 1994

Multiple Peroxisomal Enzymatic Deficiency Disorders: A Comparative Biochemical and Morphologic Study of Zellweger Cerebrohepatorenal Syndrome and Neonatal Adrenoleukodystrophy

Por Vamecq, Joseph, Draye, Jean-Pierre, Van Hoof, François, Misson, Jean-Paul, Evrard, Philippe, Verellen, Gaston, Eyssen, Hendrik J., Van Eldere, Johan, Schutgens, Ruud B. H., Wanders, Ronald J. A., Roels, Frank, Goldfischer, Sidney L.
Publicado em 1986

A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of Acyl-CoA oxidase (pseudo–Neonatal adrenoleukodystrophy)

Por Poll-The, Bwee Tien, Roels, Frank, Ogier, Hélène, Scotto, Jacques, Vamecq, Joseph, Schutgens, Ruud B. H., Wanders, Ronald J. A., van Roermund, Carlo W. T., van Wijland, Michil J. A., Schram, Adre W., Tager, Joseph M., Saudubray, Jean-Marie
Publicado em 1988

Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts

Por Leegwater, Peter A. J., Yuan, Bao Qiang, van der Steen, Jeffrey, Mulders, Joyce, Könst, Andrea A. M., Boor, P. K. Ilja, Mejaski-Bosnjak, Vlatka, van der Maarel, Silvère M., Frants, Rune R., Oudejans, Cees B. M., Schutgens, Ruud B. H., Pronk, Jan C., van der Knaap, Marjo S.
Publicado em 2001