Austin JH, Balasubramanian AS, Pattabiraman TN, et al. 1963 A controlled study of enzymic activities in three human disorders of glycolipid metabolism. J. Neurochem. 10 805–816
Article CAS PubMed Google Scholar
Austin JH 2003 Chase, chance, and creativity: The lucky art of novelty (MIT Press)
Austin JH 1958 Metachromatic sulfatides in cerebral white matter and kidney. Proc. Soc. Exp. Biol. Med. 100 361–364
Austin JH 1973 Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency. Arch. Neurol. 28 258–264
Article CAS PubMed Google Scholar
Bach G, Eisenberg F Jr, Cantz M, et al. 1973 The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc. Natl. Acad. Sci. USA 70 2134–2138
Article CAS PubMed PubMed Central Google Scholar
Beaufay H and de Duve C 1959 Tissue fractionation studies. 9. Enzymic release of bound hydrolases. Biochem. J. 73 604
Blomqvist M, Zetterberg H, Blennow K, et al. 2021 Sulfatide in health and disease. The evaluation of sulfatide in cerebrospinal fluid as a possible biomarker for neurodegeneration. Mol. Cell. Neurosci. 116 103670
Brady RO 1966 The sphingolipidoses. N. Engl. J. Med. 275 312–318
Article CAS PubMed Google Scholar
Brady RO, Gal AE, Bradley RM, et al. 1967 Enzymatic defect in Fabry’s disease: ceramidetrihexosidase deficiency. N. Engl. J. Med. 276 1163–1167
Article CAS PubMed Google Scholar
Brady RO, Kanfer JN and Shapiro D 1965 Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher’s disease. Biochem. Biophys. Res. Commun. 18 221–225
Article CAS PubMed Google Scholar
Brady RO, Kanfer JN, Mock MB, et al. 1966 The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc. Natl. Acad. Sci. USA 55 366–369
Article CAS PubMed PubMed Central Google Scholar
de Duve 2009 Obituary: Henri-Géry Hers (1923–2008). The biochemist (The Biochemical Society)
Feigin I 1954 Diffuse cerebral sclerosis (metachromatic leuko-encephalopathy). Am. J. Pathol. 30 715
CAS PubMed PubMed Central Google Scholar
Fischer G and Jatzkewitz H 1978 The activator of cerebroside-sulphatase: a model of the activation. Biochim. Biophys. Acta Lipids Lipid Metabol. 528 69–76
Gieselmann V and von Figura K 1990 Advances in the molecular genetics of metachromatic leukodystrophy. J. Inherit. Metab. Dis. 13 560–571
Article CAS PubMed Google Scholar
Hers HG 1963 α-Glucosidase deficiency in generalized glycogen-storage disease (Pompe’s disease). Biochem. J. 86 11
Article CAS PubMed PubMed Central Google Scholar
Jatzkewitz H 1959 Zwei Typen von Cerebrosid-Schwefelsäureestern als sog. “Prälipoide” und Speichersubstanzen bei der Leukodystrophie, Typ Scholz (metachromatische Form der diffusen Sklerose). Hpper-Seylers Z Physiol. Chem. 311 279–282
Kresse H and Neufeld EF 1972 The Sanfilippo A corrective factor: Purification and mode of action. J. Biol. Chem. 247 2164–2170
Article CAS PubMed Google Scholar
Mehl E and Jatzkewitz H 1965 Evidence for the genetic block in metachromatic leucodystrophy (ML). Biochem. Biophys. Res. Commun. 19 407–411
Article CAS PubMed Google Scholar
Öckerman PA 1969 Mannosidosis: isolation of oligosaccharide storage material from brain. J. Pediatr. 75 360–365
Okada S and O’Brien JS 1968 Generalized gangliosidosis: beta-galactosidase deficiency. Science 160 1002–1004
Article CAS PubMed Google Scholar
Patrick AD and Lake BD 1969 Deficiency of an acid lipase in Wolman’s disease. Nature 222 1067–1068
Article CAS PubMed Google Scholar
Polten A, Fluharty AL, Fluharty CB, et al. 1991 Molecular basis of different forms of metachromatic leukodystrophy. N. Engl. J. Med. 324 18–22
Article CAS PubMed Google Scholar
Sandhoff K, Andreae U and Jatzkewitz H 1968 Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Life Sci. 7 283–288
Article CAS PubMed Google Scholar
Sandhoff K 1969 Variation of β-N-acetylhexosaminidase-pattern in Tay-Sachs disease. FEBS Lett. 4 351–354
Article CAS PubMed Google Scholar
Scholz W 1925 Klinische, pathologisch anatomische und erbbiologische Untersuchungen bei familifirer diffuser Hirnsklerose im Kindesalter. Z. Gesamte. Neurol. Psychiatr. 99 42
Shapiro LJ, Aleck KA, Kaback MM, et al. 1979 Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr. Res. 13 1179–1181
Article CAS PubMed Google Scholar
Stumpf DA, Austin JH, Crocker AC, et al. 1973 Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): I. Sulfatase B deficiency in tissues. Am. J. Dis. Child. 126 747–755
Article CAS PubMed Google Scholar
Van Hoof F and Hers HG 1968 The abnormalities of lysosomal enzymes in mucopolysaccharidoses. Eur. J. Biochem. 7 34–44
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