Search Results - "Barranger, John A"

Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy by Cabrera-Salazar, Mario A, O'Rourke, Erin, Henderson, Nadene, Wessel, Howard, Barranger, John A

“…Background: The excessive storage of cellular debris in the lysosomal storage disorders triggers a variety of cellular responses. Some of these responses are…”
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Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014 by Barranger, John A., Brady, Roscoe O., Grabowski, Gregory A., Mankin, Henry, Mistry, Pramod K., Weinreb, Neal J.

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Guidance on the use of miglustat for treating patients with type 1 Gaucher disease by Weinreb, Neal J., Barranger, John A., Charrow, Joel, Grabowski, Gregory A., Mankin, Henry J., Mistry, Pramod

“…Type 1 Gaucher disease (GD) is a progressive lysosomal storage disorder due to an autosomal recessive deficiency of glucocerebrosidase. Clinical manifestations…”
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A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease by Tsuji, S, Choudary, P V, Martin, B M, Stubblefield, B K, Mayor, J A, Barranger, J A, Ginns, E I

“…To search for a genetic marker for type 2 Gaucher's disease (acute neuronopathic form), we compared the nucleotide sequence of a cloned glucocerebrosidase gene…”
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Radiological Evidence of Early Cerebral Microvascular Disease in Young Children with Fabry Disease by Cabrera-Salazar, Mario A., O'Rourke, Erin, Charria-Ortiz, Gustavo, Barranger, John A.

“…We report on 2 children with Fabry disease who had radiologic evidence of microvascular central nervous system involvement despite the clinical absence of…”
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Demonstration of Feasibility of In Vivo Gene Therapy for Gaucher Disease Using a Chemically Induced Mouse Model by Marshall, John, McEachern, Kerry Anne, Kyros, Julie A.Cavanagh, Nietupski, Jennifer B, Budzinski, Tracey L, Ziegler, Robin J, Yew, Nelson S, Sullivan, Jennifer, Scaria, Abraham, van Rooijen, Nico, Barranger, John A, Cheng, Seng H

“…Progress towards developing gene therapy for Gaucher disease has been hindered by the lack of an animal model. Here we describe a mouse model of Gaucher…”
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Identification of the neurotrophic factor sequence of prosaposin by O'Brien, J S, Carson, G S, Seo, H C, Hiraiwa, M, Weiler, S, Tomich, J M, Barranger, J A, Kahn, M, Azuma, N, Kishimoto, Y

“…Prosaposin, recently identified as a neurotrophic factor (1), is the precursor of saposins A, B, C, and D. The neurotrophic activity of prosaposin resides in…”
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Gene therapy for lysosomal storage disorders by Barranger, J M, Novelli, E A

“…The lysosomal storage disorders (LSD) are monogenic inborn errors of metabolism with heterogeneous pathophysiology and clinical manifestations. In the last…”
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Fabry Disease in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors by Bennett, Robin L., Hart, Kimberly A., O'Rourke, Erin, Barranger, John A., Johnson, Jack, MacDermot, Kay D., Pastores, Gregory M., Steiner, Robert D., Thadhani, Ravi

“…The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected…”
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Risks of Gaucher's treatment by Barranger, John A

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Agalsidase-beta therapy for advanced Fabry disease: a randomized trial by Banikazemi, Maryam, Bultas, Jan, Waldek, Stephen, Wilcox, William R, Whitley, Chester B, McDonald, Marie, Finkel, Richard, Packman, Seymour, Bichet, Daniel G, Warnock, David G, Desnick, Robert J

“…Fabry disease (alpha-galactosidase A deficiency) is a rare, X-linked lysosomal storage disorder that can cause early death from renal, cardiac, and…”
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Gene transfer approaches to the lysosomal storage disorders by BARRANGER, J. A, RICE, E. O, SWANEY, W. P

“…The work summarized in this paper used animal and cell culture models systems to develop gene therapy approaches for the lysosomal storage disorders. The…”
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Retrovirus-mediated gene transfer to human hematopoietic stem cells by Swaney, William P, Novelli, Enrico M, Bahnson, Alfred B, Barranger, John A

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Marrow transplantation in genetic disease by Barranger, J A

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Evaluation of glycosphingolipid clearance in patients with Fabry disease treated with agalsidase alfa who switched to agalsidase beta (the INFORM study) by Barranger, John A., Gambello, Michael J., Goker-Alpan, Ozlem, Maegawa, Gustavo H.B., Nedd, Khan J., Gruskin, Daniel J., Blankstein, Larry, Weinreb, Neal J.

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Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts by Van Weely, S, Van Leeuwen, M B, Jansen, I D, De Bruijn, M A, Brouwer-Kelder, E M, Schram, A W, Sa Miranda, M C, Barranger, J A, Petersen, E M, Goldblatt, J

“…We have investigated several parameters of glucocerebrosidase in cultured skin fibroblasts from patients with various clinical phenotypes of Gaucher disease…”
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Gene therapy for the lysosomal storage disorders by Cabrera-Salazar, Mario A, Novelli, Enrico, Barranger, John A

“…The lysosomal storage disorders (LSD) are monogenic inborn errors of metabolism with heterogeneous pathophysiology and clinical manifestations. In recent…”
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49. An improved dried blood spot screening method for Gaucher disease by Keutzer, Joan, Titlow, Mariah, Kallwass, Helmut, Barranger, John A.

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Synthesis and characterization of a bioactive 82-residue sphingolipid activator protein, saposin C by Weiler, S, Carson, W, Lee, Y, Teplow, D B, Kishimoto, Y, O'Brien, J S, Barranger, J A, Tomich, J M

“…The sphingolipid activator protein, saposin C (also termed SAP 2), was chemically synthesized, purified, and characterized. The fully protected 82-residue…”
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Surrogate markers for lysosomal storage by Cabrera-Salazar, Mario A., Barranger, John A.

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