Rational diagnostic strategy for Zellweger syndrome spectrum patients

Adrenoleukodystrophy

Hugo W. Moser, Ann B. Moser, Karen K. Frayer et al. · Neurology · 1981 · 397 citations · Full text

Life Sciences, Biochemistry, Pathobiology +17

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

P. Edward Purdue, Jing Wei Zhang, Marek Skoneczny et al. · Nature Genetics · 1997 · 270 citations

Life Sciences, Genetics, Molecular Genetics +7

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

Ann B. Moser, Magnhild Rasmussen, Sakkubai Naidu et al. · The Journal of Pediatrics · 1995 · 244 citations

Life Sciences, Genetics, Human Genetics +12

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

Bernadette E. Reuber, Emily L. Germain‐Lee, Cynthia S. Collins et al. · Nature Genetics · 1997 · 235 citations

Life Sciences, Genetics, Molecular Genetics +13

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

Hugo W. Moser, Ann B. Moser, Nariko Kawamura et al. · Annals of Neurology · 1980 · 214 citations

Life Sciences, Biochemistry, Pathology +11