Glycogen storage diseases

Hoof, F. Van; Hue, Louis; Barsy, Thierry de; Jacquemin, Paul; Devos, Pierre; Hers, Henri‐Géry

doi:10.1016/s0300-9084(72)80177-9

Cited by 40 publications

(11 citation statements)

References 15 publications

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“…Ultrastructural studies of biopsies Loeb et al, 1969;Freitag et al, 1971;Crovato et al, 1971;Van Hoof, 1973;Libert et al, 1976;Landing et al, 1976;Bugiani and Borrone, 1976;Kornfeld et al, 1977;Troost et al, 1977b;Larbrisseau et al, 19791 and autopsies Troost et al, 1977b;Larbrisseau et al, 19791 have shown similar manifestations in most patients. Liver, brain, peripheral nerves, pancreas, skin, conjunctiva, and cultured fibroblasts show vacuolation of varying degree.…”

Section: Pathological Abnormalitiesmentioning

confidence: 97%

“…Their ethnic origin shows a worldwide distribution, although the majority are of Italian descent . The clinical picture consists of progressive neurologic deterioration with mental retardation, seizures, dysostosis multiplex, visceromegaly, angiokeratoma and teleangiectasiae, ocular abnormalities, postnatal growth retardation, and dystrophy [Durand et al, , 1982Loeb et al, 1969;Van Hoof, 1973;Borrone et al, 1974;Landing et al, 1976;Kousseff et al, 19761. Considerable clinical variability has been reported: a minority of patients, including the original patients, have rapidly progressive neurologic deterioration leading to decerebration and death before age 5 years Matsuda et al, 197313;Larbrisseau et al, 1978, 19791.…”

Section: Introductionmentioning

confidence: 99%

“…Excellent review studies on fucosidosis have been performed [Van Hoof, 1973;Dawson and Tsay, 1976;Alhadeff and O'Brien, 1977;, but these were published before the cloning of the fucosidase gene in 1984.…”

Section: Introductionmentioning

confidence: 99%

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Fucosidosis revisited: A review of 77 patients

et al. 1991

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Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase in all tissues. We have conducted a review of fucosidosis, compiling data from published reports and an international questionnaire survey. Seventy-seven patients affected with fucosidosis of which 19 had not been reported before have been identified. A major aim of the present study was to define the natural history of fucosidosis. The clinical picture of fucosidosis consists of progressive mental (95%) and motor (87%) deterioration, coarse facies (79%), growth retardation (78%), recurrent infections (78%), dysostosis multiplex (58%), angiokeratoma corporis diffusum (52%), visceromegaly (44%), and seizures (38%). Whereas the original fucosidosis patients described by Durand et al. (J. Pediatr 75:665-674, 1969) were decerebrate and died before age 5 years, most fucosidosis patients have a slower course of degeneration. Mortality before age 5 years was observed in only 7 patients (9%), whereas 36 patients (64%) reached the second decade. We did not find evidence for the existence of clinical heterogeneity with a rapidly progressive type I and a slowly progressive type II fucosidosis as suggested in the literature. Instead, there seems to exist a wide continuous clinical spectrum. At the biochemical level no heterogeneity in residual fucosidase enzyme activity or cross-reacting immunoreactive fucosidase protein was observed. At the DNA level at least 4 different mutations must be responsible for fucosidosis. These genotypic differences however do not explain the observed phenotypic differences.

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Section: Pathological Abnormalitiesmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

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Fucosidosis revisited: A review of 77 patients

et al. 1991

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“…So far, attempts to relieve the severity of Pompe's disease by enzyme replacement therapy using this preparation have been unsuccessful [59].…”

Section: A-glucosidasementioning

confidence: 99%

Multiple Forms of Glycosidases in the Normal and Pathological States

Robinson¹

1974

Enzyme

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Multiple forms of α- and β-galactosidase, α- and β-glucosidase, α- and β-hexosaminidases, α-mannosidase, α-fucosidase, and α-iduronidase of human tissues are surveyed. Their relationship to known storage disorders of glycolipid, glycoprotein, and mucopolysaccharide metabolism are discussed. A sub-unit hypothesis is presented to explain the interrelationships of multiple forms of β-N-acetylhexosaminidases that may be of wider application to include other glycosidases.

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“…Numerous studies focused on glycogen storage diseases in human [10][11][12][13][14][15][16]. There are also many studies on glycogen network in prokaryotes [17][18][19][20][21][22][23][24][25], which serve as simple models of glycogen storage diseases in mammals, but most of them focus on glycogen network only.…”

Section: Introductionmentioning

confidence: 99%