Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): Report on two patients detected by analysis of urinary sphingolipids and carrying... von Kuchař, Ladislav, Ledvinová, Jana, Hřebíček, Martin, Myšková, Helena, Dvořáková, Lenka, Berná, Linda, Chrastina, Petr, Asfaw, Befekadu, Elleder, Milan, Petermöller, Margret, Mayrhofer, Heidi, Staudt, Martin, Krägeloh-Mann, Ingeborg, Paton, Barbara C., Harzer, Klaus

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Pex13 Inactivation in the Mouse Disrupts Peroxisome Biogenesis and Leads to a Zellweger Syndrome Phenotype von Maxwell, Megan, Bjorkman, Jonas, Nguyen, Tam, Sharp, Peter, Finnie, John, Paterson, Carol, Tonks, Ian, Paton, Barbara C., Kay, Graham F., Crane, Denis I.

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Defective Peroxisome Membrane Synthesis Due To Mutations in Human PEX3 Causes Zellweger Syndrome, Complementation Group G von Muntau, Ania C., Mayerhofer, Peter U., Paton, Barbara C., Kammerer, Stefan, Roscher, Adelbert A.

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Saposins ( sap) A and C activate the degradation of galactosylsphingosine von Harzer, Klaus, Hiraiwa, Masao, Paton, Barbara C

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Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance von Nguyen, Tam, Bjorkman, Jonas, Paton, Barbara C, Crane, Denis I

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Saposins ( sap) A and C activate the degradation of galactosylceramide in living cells von Harzer, Klaus, Paton, Barbara C, Christomanou, Helen, Chatelut, Martine, Levade, Thierry, Hiraiwa, Masao, O'Brien, John S

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PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders von Crane, Denis I., Maxwell, Megan A., Paton, Barbara C.

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Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group von Paton, B C, Pollard, A N

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Novel PEX1 coding mutations and 5′ UTR regulatory polymorphisms von Maxwell, Megan A., Leane, Pamela B., Paton, Barbara C., Crane, Denis I.

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Metabolism of trideuterated iso‐lignoceric acid in rats in Vivo and in human fibroblasts in culture von Poulos, Alfred, Stockham, Peter C., Johnson, David W., Paton, Barbara C., Beckman, Kaye, Singh, Harmeet

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Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients von Maxwell, Megan A., Allen, Tamara, Solly, Pamela B., Svingen, Terje, Paton, Barbara C., Crane, Denis I.

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Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders von Zhang, Zhongyi, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Fukuda, Seiji, Imamura, Atsushi, Tsukamoto, Toshiro, Osumi, Takashi, Fujiki, Yukio, Orii, Tadao, Wanders, Ronald J.A., Barth, Peter G., Moser, Hugo W., Paton, Barbara C., Besley, Guy T., Kondo, Naomi

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NovelPEX1 coding mutations and 5′ UTR regulatory polymorphisms von Maxwell, Megan A., Leane, Pamela B., Paton, Barbara C., Crane, Denis I.

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Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene von SCHNABEL, D, SCHRODER, M, SANDHOFF, K, FÜRST, W, KLEIN, A, KURWITZ, R, ZENK, T, WEBER, J, HARZER, K, PATON, B. C, SUZUKI, K

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A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype von Maxwell, M.A., Nelson, P.V., Chin, S.J., Paton, B.C., Carey, W.F., Crane, D.I.

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NovelPEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients von Maxwell, Megan A., Allen, Tamara, Solly, Pamela B., Svingen, Terje, Paton, Barbara C., Crane, Denis I.

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Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects von Paton, B C, Sharp, P C, Crane, D I, Poulos, A

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Peroxisomal assembly defects: Clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group von Poulos, Alfred, Christodoulou, John, Chow, Chung W., Goldblatt, Jack, Paton, Barbara C., Orii, Tadao, Suzuki, Yasuyuki, Shimozawa, Nobuyuki

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Absence of Mutations Raises Doubts about the Role of the 70-kD Peroxisomal Membrane Protein in Zellweger Syndrome von PATON, BARBARA C., HERON, SARAH E., NELSON, PAUL V., MORRIS, C. PHILLIP, POULOS, ALFRED

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Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficiencies von Chatelut, Martine, Harzer, Klaus, Christomanou, Helen, Feunteun, Jean, Pieraggi, Marie-Thérèse, Paton, Barbara C., Kishimoto, Yasuo, O'Brien, John S., Basile, Jean-Pierre, Thiers, Jean-Claude, Salvayre, Robert, Levade, Thierry

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