Zobrazeno 1 - 10
of 99
pro vyhledávání: '"H. Christomanou"'
Autor:
F. X. Sanmarti, V. Cusi, M. Pineda, Isidro Ferrer, H. Christomanou, A. Chabás, M. Girós, T. Pámpols, Marie T. Vanier
Publikováno v:
ACTA NEUROPATHOLOGICA
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Glucosylceramide lipidosis results from a defective lysosomal degradation of this glycolipid. Lipid degradation is controlled by two components, the enzyme beta-glucocerebrosidase and a sphingolipid activator protein. While most Gaucher cases are due
Publikováno v:
Biochemical and Molecular Medicine. 55:105-115
Ferritin, the major iron storage protein, was found to be undetectable on immunoblot analysis of spleen and liver extracts from four patients with Niemann-Pick disease type C (NPC). The patients had died from different clinical forms of this storage
Publikováno v:
Atherosclerosis. 252:e75
Publikováno v:
Acta Neuropathologica. 88:579-582
We found two patterns of leptomeningeal storage that reflect two basic visceral storage patterns in Fabry disease. (i) A generalized-type leptomeningeal storage pattern, affecting all main leptomeningeal cell types (external arachnoideal epithelium,
Autor:
Wolfgang Sperl, Eduard Paschke, E. Steichen-Gersdorf, G. Bart, I. Baldissera, Marie T. Vanier, H. Christomanou
Publikováno v:
Journal of Inherited Metabolic Disease. 17:93-103
We report a family with six patients suffering from a sphingomyelinase-deficient form of Niemann-Pick disease, all presenting with a visceral course of the disease. Retinal changes classified as macular halos in four members indicated neuronal storag
Publikováno v:
Atherosclerosis Supplements. 11:114-115
Publikováno v:
European Journal of Pediatrics. 151:29-31
Recent data indicate that insulin-like growth factor II (IGF II) and lysosomal enzymes bind to a common receptor. We measured serum IGF I and II levels in 16 patients with various lysosomal storage disorders. The IGF serum concentrations were normal
Autor:
P, Manta, P, Kontoleon, A, Panousopoulou, N, Kalfakis, H, Christomanou, P, Papapetrou, C, Papageorgiou
Publikováno v:
Functional neurology. 11(2-3)
An eight-member family is presented with two female members suffering from the juvenile form of acid maltase deficiency (AMD), the diagnosis confirmed by biochemical study of muscle. Biochemical leucocyte investigation revealed reduced a-glucosidase
Autor:
J. Seeger, B. Kustermann-Kuhn, U. Langenbeck, Klaus Harzer, B. Schmid, W. Schlote, Barbara C. Paton, I. Schuster, U. Beudt, H. Christomanou
Publikováno v:
European journal of pediatrics. 150(8)
A 7-year-old boy had clinical features of metachromatic leucodystrophy (MLD), however, an increased urinary sulphatide excretion was found in the presence of normal arylsulphatase A (and alpha-galactosidase A) activity. A rectal biopsy showed metachr
Autor:
H. Christomanou, Konrad Sandhoff
Publikováno v:
Clinica Chimica Acta. 79:527-531
A sensitive fluorometric assay utilizing 4-methylumbelliferyl sulphate has been developed for the simultaneous determination of arylsulphatases A and B from leucocytes, based on the differential effect of silver ions on the two enzymes. The procedure