Zobrazeno 1 - 10
of 33
pro vyhledávání: '"G. M. Pastores"'
Publikováno v:
Biochemistry (Moscow). 78:721-725
The lysosomal storage disorders (LSD) represent a heterogeneous group of inherited diseases characterized by the accumulation of non-metabolized macromolecules (by-products of cellular turnover) in different tissues and organs. LSDs primarily develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e1c4b0a63820eade1409cab23a2cd2a
https://doi.org/10.1134/s0006297913070043
https://doi.org/10.1134/s0006297913070043
Autor:
F. Chen, Sarah Michelman Lo, Michael Boxer, Pramod K. Mistry, G. M. Pastores, Jun Liu, James A. Knowles, Kirk Aleck
Publikováno v:
Journal of Inherited Metabolic Disease. 34:643-650
Pulmonary arterial hypertension (PAH) and hepatopulmonary syndrome (HPS) are rare pulmonary vascular complications of type 1 Gaucher disease (GD1). We examined GBA1 genotype, spleen status, Severity Score Index (SSI), and other patient characteristic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab3d1fbdd24d005b412d3108e402d38a
https://doi.org/10.1007/s10545-011-9313-9
https://doi.org/10.1007/s10545-011-9313-9
Autor:
Atul Mehta, Paige Kaplan, G. M. Pastores, Sharon E. Smith, Roberta Lemay, Neal J. Weinreb, Ana Cristina Puga, Priya S. Kishnani, M. DiRocco
Publikováno v:
Molecular Genetics and Metabolism. 96:164-170
Imiglucerase (Cerezyme) has been the standard of care for treatment of Gaucher disease, a lysosomal storage disorder resulting from deficiency of glucocerebrosidase, since its approval in 1994. Infusions are typically given once every 2 weeks. Howeve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5dadc9c7bc540ff400c2bba65e002b2
https://doi.org/10.1016/j.ymgme.2008.12.015
https://doi.org/10.1016/j.ymgme.2008.12.015
Autor:
Paola Leone, Paola Torres, Edwin H. Kolodny, G. M. Pastores, Srinivasa S. Raghavan, Zhao-Hui Wang, B. J. Zeng
Publikováno v:
Molecular Genetics and Metabolism. 89:156-163
Canavan disease (CD), an autosomal recessive neurodegenerative disorder, is caused by mutations in the aspartoacylase (ASPA) gene. In the present study, the ASPA gene was analyzed in 24 non-Jewish patients with CD from 23 unrelated families. Within t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6980fdb47c6f0be690f4ece4ceecc1e
https://doi.org/10.1016/j.ymgme.2006.05.014
https://doi.org/10.1016/j.ymgme.2006.05.014
Autor:
G M Pastores
Publikováno v:
Therapy. 1:203-211
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::791b601efeef00ebc3fbceba7c6868aa
https://doi.org/10.1586/14750708.1.2.203
https://doi.org/10.1586/14750708.1.2.203
Autor:
Chris Morrison, H. Rubin, G. M. Pastores, Edwin H. Kolodny, Orit Neudorfer, Charles M. Zaroff
Publikováno v:
Neurology. 62:2283-2286
Objective: To characterize cognitive status in a sample of individuals with late-onset G M2 gangliosidosis (commonly referred to as late-onset Tay-Sachs disease). Methods: Seventeen subjects (13 men, 4 women) diagnosed with G M2 gangliosidosis were e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::249bad418a08c1c992adb1890745afa5
https://doi.org/10.1212/01.wnl.0000130498.19019.02
https://doi.org/10.1212/01.wnl.0000130498.19019.02
Publikováno v:
Quality of Life Research. 11:317-327
This paper is the first of its kind to study the impact of Fabry disease (FD) in affected males, and shows that FD is associated with a significant decline in several domains. Using the medical outcomes study (MOS) SF-36 and a FD-specific questionnai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e540f99e444ff1d94480d197bd3e1848
https://doi.org/10.1023/a:1015511908710
https://doi.org/10.1023/a:1015511908710
Autor:
G. M. Pastores, Derralynn Hughes
Fabry's disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A activity and the resultant accumulation of its primary substrate globotriaosylceramide (also known as ceramide trihexoside). Patients experien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::84929f16964c3c8d459928ccb940aa97
https://doi.org/10.1016/b978-0-12-385157-4.00101-9
https://doi.org/10.1016/b978-0-12-385157-4.00101-9
Publikováno v:
Skeletal Radiology. 26:687-696
The clinical, pathological and radiological manifestations of type 1 Gaucher disease and the role of imaging techniques such as CT, MRI and sulfur-colloid scintigraphy in the management of these patients is discussed. MRI appears to be the most valua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be4cb11af25080ba6e749be1e55e504d
https://doi.org/10.1007/s002560050313
https://doi.org/10.1007/s002560050313
Publikováno v:
The Journal of Bone and Joint Surgery. British volume. :702-705
We report a unique case of juxtacortical osteoblastoma of the humeral shaft, which simulated the appearance of an extraosseous extension of Gaucher-cell deposits. The tumour was treated successfully by curettage and bone grafting. We can find no prev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::772f65bfce552e2d915fb935e0d7291f
https://doi.org/10.1302/0301-620x.78b5.0780702
https://doi.org/10.1302/0301-620x.78b5.0780702