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American Journal of Human Genetics|March 1, 1980
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two casesH Groebe, M Krins, H Schmidberger, et al.
Developmental Neuroscience|January 1, 1991
Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneityM T Vanier, C Rodriguez-Lafrasse, R Rousson, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology|January 1, 1990
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathyM Elleder, V Bradová, F Smíd, et al.
The Journal of Biological Chemistry|February 15, 1992
Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common geneD Schnabel, M Schröder, W Fürst, et al.
American Journal of Human Genetics|May 3, 2001
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loopG Millat, C Marçais, C Tomasetto, et al.
American Journal of Medical Genetics|September 5, 1997
Leukodystrophy incidence in GermanyP Heim, M Claussen, B Hoffmann, et al.
European Journal of Pediatrics|April 1, 1989
A case of combined Farber and Sandhoff diseaseC Fusch, R Huenges, H W Moser, et al.
European Journal of Pediatrics|June 1, 1991
Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical, and immunological studyW Schlote, K Harzer, H Christomanou, et al.
Journal of Hepatology|November 7, 1999
Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutationS vom Dahl, K Harzer, A Rolfs, et al.
Neuroradiology|June 19, 2002
Determination of hemisphere dominance for language: comparison of frontal and temporal fMRI activation with intracarotid amytal testingJ Spreer, S Arnold, A Quiske, et al.
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