Edwin H. Kolodny

Natural history of Tay-Sachs disease in sheep

Brett D. Story, Toloo Taghian, Jillian Gallagher, Jennifer W. Koehler et autres

us (code pays fourni par la source)

Gaucher disease: Basic and translational science needs for more complete therapy and management

Gregory Alex Grabowski, Armand H. Matheny Antommaria, Edwin H. Kolodny, Pramod Kumar Mistry

us, au (code pays fourni par la source)

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.

Alyssa M. Brown, Akemi Joy Tanaka, Ir�ne Maire, Konrad Sandhoff et autres

A single nucleotide transition within exon 5 of the beta-hexosaminidase alpha chain gene was identified in a Puerto Rican patient with GM2-gangliosidosis B1 variant as the mutation responsible for the unusual enzymological characteristics of this variant (G533----A; Arg178----His) (the DN-allele). A total …

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Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy

Zohar Argov, Faye Bronstein, Y. Feinsod-Meiri, Julaine M Florence et autres

OBJECTIVE: To characterize the pattern and extent of muscle weakness and impact on physical functioning in adults with GNEM. METHODS: Strength and function were assessed in GNEM subjects (n = 47) using hand-held dynamometry, manual muscle testing, upper and lower extremity functional …

il, us (code pays fourni par la source)

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry

Pramod Kumar Mistry, Julie L. Batista, Hans Christer Andersson, Manisha Balwani et autres

This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in 1991. …

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Transformation in pre-treatment presentations of Gaucher disease during the first two decades of imiglucerase enzyme replacement therapy: a report from the International Collaborative Gaucher Group Gaucher Registry

Neal J. Weinreb, Julie L. Batista, Hans Christer Andersson, Manisha Balwani et autres

us, ca (code pays fourni par la source)

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

Amal M. El-Beshlawy, Anna Tylki‐Szymańska, Ashok Vellodi, Nadia Belmatoug et autres

In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the absence (type 1 [GD1]) or presence and severity of primary central nervous system involvement (type 2 [GD2], the …

Égypte, pl, gb, fr, us (code pays fourni par la source)

Transformation in Pre-Treatment Presentations of Gaucher Disease during the First Two Decades of Imiglucerase Enzyme Replacement Therapy: A Report from the International Collaborative Gaucher Group Gaucher Registry

Pramod Kumar Mistry, Neal J. Weinreb, Julie L. Batista, Hans Christer Andersson et autres

Abstract We hypothesized that the prevalence of clinical manifestations of Gaucher disease type 1 (GD1) at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in 1991. US alglucerase/imiglucerase-treated GD1 patients …

us, ca (code pays fourni par la source)

Patent Foramen Ovale and Cryptogenic Strokes in the Stroke in Young Fabry Patients Study

Roman Huber, Ulrike Grittner, Frank Weidemann, Vincent Thijs et autres

BACKGROUND AND PURPOSE: A patent foramen ovale (PFO) is disproportionately prevalent in patients with cryptogenic stroke. Without alternative explanations, it is frequently considered to be causative. A detailed stratification of these patients may improve the identification of incidental PFO. METHODS: We investigated …

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues

Robert J. Desnick, Norman W. Barton, Scott Furbish, Gregory A. Grabowski et autres

us, se (code pays fourni par la source)

Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population

Turgut Tatlisumak, Jukka Putaala, Markus Innilä, Christian Enzinger et autres

fi, se, at, de, pt, au, us (code pays fourni par la source)

Family History in Young Patients With Stroke

Vincent Thijs, Ulrike Grittner, Martin Dichgans, Christian Enzinger et autres

BACKGROUND AND PURPOSE: Family history of stroke is an established risk factor for stroke. We evaluated whether family history of stroke predisposed to certain stroke subtypes and whether it differed by sex in young patients with stroke. METHODS: We used data from …

de, us (code pays fourni par la source)