Search Results - "Pastores, G M"

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy by Lo, Sarah Michelman, Liu, Jun, Chen, F., Pastores, G. M., Knowles, J., Boxer, M., Aleck, Kirk, Mistry, Pramod K.

“…Pulmonary arterial hypertension (PAH) and hepatopulmonary syndrome (HPS) are rare pulmonary vascular complications of type 1 Gaucher disease (GD1). We examined…”
Get full text

Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study by Anderson, L. J., Wyatt, K. M., Henley, W., Nikolaou, V., Waldek, S., Hughes, D. A., Pastores, G. M., Logan, S.

“…Objectives To determine the effectiveness of enzyme replacement therapy (ERT) for adults and children with Fabry disease. Design Cohort study including…”
Get full text

Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study by Sims, KB, Pastores, GM, Weinreb, NJ, Barranger, J, Rosenbloom, BE, Packman, S, Kaplan, P, Mankin, H, Xavier, R, Angell, J, Fitzpatrick, MA, Rosenthal, D

“…Progressive skeletal disease accounts for some of the most debilitating complications of type 1 Gaucher disease. In this 48‐month, prospective, non‐randomized,…”
Get full text

Imiglucerase (Cerezyme®) improves quality of life in patients with skeletal manifestations of Gaucher disease by Weinreb, N, Barranger, J, Packman, S, Prakash-Cheng, A, Rosenbloom, B, Sims, K, Angell, J, Skrinar, A, Pastores, GM

“…Health‐related quality of life (HRQOL) can be diminished in patients with type 1 Gaucher disease (GD) owing to the debilitating clinical manifestations of this…”
Get full text

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring by Cox, T. M., Aerts, J. M. F. G., Belmatoug, N., Cappellini, M. D., vom Dahl, S., Goldblatt, J., Grabowski, G. A., Hollak, C. E. M., Hwu, P., Maas, M., Martins, A. M., Mistry, P. K., Pastores, G. M., Tylki-Szymanska, A., Yee, J., Weinreb, N.

“…Summary Enzyme replacement was introduced as treatment for non-neuronopathic Gaucher disease more than 15 years ago. To ensure the best use of this costly…”
Get full text

The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement by Cox, T. M., Aerts, J. M. F. G., Andria, G., Beck, M., Belmatoug, N., Bembi, B., Chertkoff, R., Vom Dahl, S., Elstein, D., Erikson, A., Giralt, M., Heitner, R., Hollak, C., Hrebicek, M., Lewis, S., Mehta, A., Pastores, G. M., Rolfs, A., Sa Miranda, M. C., Zimran, A.

“…N‐Butyldeoxynojirimycin (NB‐DNJ, miglustat ‘Zavesca’) is an orallyactive iminosugar which inhibits the biosynthesis of macromolecular substrates that…”
Get full text

Greater risk of parkinsonism associated with non-N370S GBA1 mutations by Barrett, M. J., Giraldo, P., Capablo, J. L., Alfonso, P., Irun, P., Garcia-Rodriguez, B., Pocovi, M., Pastores, G. M.

“…Mutations in β-glucosidase ( GBA1 ) are the most common genetic risk factor for Parkinson disease (PD). There is evidence to suggest that PD risk is greater…”
Get full text

Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study by Anderson, L. J., Henley, W., Wyatt, K. M., Nikolaou, V., Waldek, S., Hughes, D. A., Pastores, G. M., Logan, S.

“…Objectives To determine the effectiveness of enzyme replacement therapies (ERT) for children with Gaucher disease (GD). Design A longitudinal cohort study…”
Get full text

Long‐Term Outcomes of Liver Transplantation in Type 1 Gaucher Disease by Ayto, R. M., Hughes, D. A., Jeevaratnam, P., Rolles, K., Burroughs, A. K., Mistry, P. K., Mehta, A. B., Pastores, G. M.

“…Gaucher disease (GD) is the most prevalent lysosomal storage disorder. Enzyme replacement therapy (ERT) has demonstrable efficacy in reversing clinical and…”
Get full text

Quality of Life of Patients with Fabry Disease by Gold, K F, Pastores, G M, Botteman, M F, Yeh, J M, Sweeney, S, Aliski, W, Pashos, C L

“…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…”
Get full text

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease by Biegstraaten, M., Cox, T.M., Belmatoug, N., Berger, M.G., Collin-Histed, T., Vom Dahl, S., Di Rocco, M., Fraga, C., Giona, F., Giraldo, P., Hasanhodzic, M., Hughes, D.A., Iversen, P.O., Kiewiet, A.I., Lukina, E., Machaczka, M., Marinakis, T., Mengel, E., Pastores, G.M., Plöckinger, U., Rosenbaum, H., Serratrice, C., Symeonidis, A., Szer, J., Timmerman, J., Tylki-Szymańska, A., Weisz Hubshman, M., Zafeiriou, D.I., Zimran, A., Hollak, C.E.M.

“…Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a…”
Get full text

Pulmonary involvement in Type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease by Miller, A, Brown, LK, Pastores, GM, Desnick, RJ

“…Pulmonary disease is a well‐known complication of Type 1 Gaucher disease (GD), although its incidence is not well established and its severity varies. The…”
Get full text

Neuropsychological assessment of patients with late onset GM2 gangliosidosis by ZAROFF, C. M, NEUDORFER, O, MORRISON, C, PASTORES, G. M, RUBIN, H, KOLODNY, E. H

“…To characterize cognitive status in a sample of individuals with late-onset GM2 gangliosidosis (commonly referred to as late-onset Tay-Sachs disease)…”
Get full text

Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties by Zia, A, Kolodny, E. H, Pastores, G. M

“…Very long-chain acyl-CoA dehydrogenase (VLCAD) catalyses the initial step of mitochondrial β-oxidation of long-chain fatty acids with a chain length of 14 to…”
Get full text

A neurological symptom survey of patients with type I Gaucher disease by Pastores, G. M., Barnett, N. L., Bathan, P., Kolodny, E. H.

“…Gaucher disease is an inborn error of glycosphingolipid metabolism resulting from deficiency of the lysosomal enzyme glucocerebrosidase. The majority of the…”
Get full text

Identification and characterization of novel mutations of the aspartoacylase gene in non‐Jewish patients with Canavan disease by Zeng, B. J., Wang, Z. H., Ribeiro, L. A., Leone, P., De Gasperi, R., Kim, S. J., Raghavan, S., Ong, E., Pastores, G. M., Kolodny, E. H.

“…Canavan disease, an inherited leukodystrophy, is caused by mutationsin the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish…”
Get full text

Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson’s disease by Wang, Z.H, Ji, Y, Shan, W, Zeng, B, Raksadawan, N, Pastores, G.M, Wisniewski, T, Kolodny, E.H

“…Tyrosine hydroxylase (TH) and brain-derived neurotrophic factor (BDNF), expressed in normal astrocytes, were used in combination for the treatment of…”
Get full text

Autosomal Dominant Gene Negative Frontotemporal Dementia-Think of SCA17 by Olszewska, Diana Angelika, Fallon, E. M., Pastores, G. M., Murphy, K., Blanco, A., Lynch, T., Murphy, S. M.

“…SCA 17 is a rare, autosomal dominant disorder caused by TBP gene CAG/CAA repeat expansion. Ataxia and dementia are common. The presence of frontal dysfunction…”
Get full text

A questionnaire study for 128 patients with Gaucher disease by Mankin, HJ, Trahan, CA, Barnett, NA, Laughead, J, Bove, CM, Pastores, GM

“…Gaucher disease is an uncommon autosomal recessive disorder characterized by lysosomal storage of glucosyl ceramide, a material released during cell…”
Get full text

Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months by Pastores, Gregory M., Sibille, Arlyn R., Grabowski, Gregory A.

“…Gaucher disease is the most frequent lysosomal storage disease and the most prevalent genetic disease among the Ashkenazi Jews (q approximately 0.047). The…”
Get full text