Search Results - "Whitley, C. B."

Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome by Tolar, J, Grewal, S S, Bjoraker, K J, Whitley, C B, Shapiro, E G, Charnas, L, Orchard, P J

“…Hurler syndrome (mucopolysaccharidosis type I, MPS IH) is characterized by a deficiency of α- L -iduronidase resulting in progressive multiorgan dysfunction…”
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Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation by Polgreen, L E, Tolar, J, Plog, M, Himes, J H, Orchard, P J, Whitley, C B, Miller, B S, Petryk, A

“…Short stature is characteristic of Hurler syndrome, or mucopolysaccharidosis type IH (MPS IH). Hematopoietic stem cell transplantation (HSCT) is used to treat…”
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Increased longevity and metabolic correction following syngeneic BMT in a murine model of mucopolysaccharidosis type I by Wolf, D A, Lenander, A W, Nan, Z, Braunlin, E A, Podetz-Pedersen, K M, Whitley, C B, Gupta, P, Low, W C, McIvor, R S

“…Mucopolysaccharidosis type I (MPS I) is an autosomal recessive inherited disease caused by deficiency of the glycosidase α- L -iduronidase (IDUA). Deficiency…”
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SAAMP 2.0: An algorithm to predict genotype‐phenotype correlation of lysosomal storage diseases by Ou, L., Przybilla, M.J., Whitley, C.B.

“…Lysosomal storage diseases (LSDs) are a group of genetic disorders, resulting from deficiencies of lysosomal enzyme. Genotype‐phenotype correlation is…”
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The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome by Eisengart, J.B., King, K.E., Shapiro, E.G., Whitley, C.B., Muenzer, J.

“…In neuronopathic Hunter syndrome, neurobehavioral symptoms are known to be serious but have been incompletely described. While families face significant stress…”
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Retroviral vector design studies toward hematopoietic stem cell gene therapy for mucopolysaccharidosis type I by PAN, D, ARONOVICH, E, MCIVOR, R. S, WHITLEY, C. B

“…To optimize a gene transfer system for hematopoietic stem cell gene therapy of patients with mucopolysaccharidosis (MPS) type I, 10 retroviral vectors were…”
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Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion by Whitley, C B, Ridnour, M D, Draper, K A, Dutton, C M, Neglia, J P

“…This direct method for quantifying excessive urinary glycosaminoglycan excretion exploits the specific binding of 1,9-dimethylmethylene blue (DMB). The…”
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Real-time quantitative polymerase chain reaction to assess gene transfer by Becker, K, Pan, D, Whitley, C B

“…Accurate quantification of gene transfer (or gene correction) is a universal challenge in the field of gene therapy. In developing a clinical trial of…”
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Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome by Eisengart, J.B., King, K.E., Shapiro, E., Whitley, C.B., Muenzer, J.

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A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy by Silvestri, G, Santorelli, F M, Shanske, S, Whitley, C B, Schimmenti, L A, Smith, S A, DiMauro, S

“…We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy: the proband and two siblings…”
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Molecular genetic defect underlying α-L-iduronidase pseudodeficiency by ARONOVICH, E. .L, DAO PAN, WHITLEY, C. B

“…Mucopolysaccharidosis type I (i.e., Hurler, Hurler-Scheie, and Scheie syndromes) and type II (i.e., Hunter syndrome) are lysosomal storage disorders resulting…”
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Genotype-Phenotype Correspondence in Sanfilippo Syndrome Type B by Zhao, Hong G., Aronovich, Elena L., Whitley, Chester B.

“…Sanfilippo syndrome type B, or mucopolysaccharidosis type IIIB, results from defects in the gene for α-N-acetylglucosaminidase (NAGLU); only a few mutations…”
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NAGLU Mutations Underlying Sanfilippo Syndrome Type B by Schmidtchen, Artur, Greenberg, David, Zhao, Hong G., Li, Hong Hua, Huang, Yan, Tieu, Phuong, Zhao, Hui-Zhi, Cheng, Samson, Zhao, Zhaoyang, Whitley, Chester B., Di Natale, Paola, Neufeld, Elizabeth F.

“…Sanfilippo syndrome type B (mucopolysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of α-N-acetylglucosaminidase, one of the…”
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Busulfan Disposition in Children by Grochow, Louise B., Krivit, William, Whitley, Chester B., Blazar, Bruce

“…Children receive busulfan orally as part of myeloablative therapy before bone marrow transplantation for malignant and nonmalignant conditions. Children have…”
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Metabolic Correction and Cross-Correction of Mucopolysaccharidosis Type II (Hunter Syndrome) by Retroviral-Mediated Gene Transfer and Expression of Human Iduronate-2-Sulfatase by Braun, Stephen E., Aronovich, Elena L., Anderson, Rose Ann, Crotty, Paul L., McIvor, R. Scott, Whitley, Chester B.

“…To explore the possibility of using gene transfer to provide iduronate-2-sulfatase (IDS; EC 3.1.6.13) enzyme activity for treatment of Hunter syndrome, an…”
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Combined ultrafiltration-transduction in a hollow-fiber bioreactor facilitates retrovirus-mediated gene transfer into peripheral blood lymphocytes from patients with mucopolysaccharidosis type II by Pan, D, Shankar, R, Stroncek, D F, Whitley, C B

“…The process of growing and transducing large quantities of human primary peripheral blood lymphocytes (PBLs) with high gene transfer efficiency continues to be…”
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Retroviral transduction and expansion of peripheral blood lymphocytes for the treatment of mucopolysaccharidosis type II, Hunter's syndrome by Stroncek, David F., Hubel, Allison, Shankar, Raji A., Burger, Scott R., Pan, Dao, McCullough, Jeffrey, Whitley, Chester B.

“…BACKGROUND: Gene therapy using autologous peripheral blood lymphocytes (PBLs) has been used to produce adenosine deaminase with which to treat patients with…”
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Enzymatic correction and cross-correction of mucopolysaccharidosis type I fibroblasts by adeno-associated virus-mediated transduction of the alpha-L-iduronidase gene by Hartung, S D, Reddy, R G, Whitley, C B, McIvor, R S

“…Mucopolysaccharidosis type I (MPS I), a deficiency in the lysosomal enzyme alpha-L-iduronidase (IDUA), is characterized by skeletal abnormalities,…”
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Retroviral transduction of peripheral blood leukocytes in a hollow- fiber bioreactor by Shankar, Raji, Whitley, Chester B., Pan, Dao, Burger, Scott, McCullough, Jeffrey, Stroncek, David

“…BACKGROUND: Peripheral blood white cells (leukocytes) (PBLs) have been used as effective targets for genetic manipulation by transduction with retroviruses in…”
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Pathology of the liver in mucopolysaccharidosis: light and electron microscopic assessment before and after bone marrow transplantation by Resnick, J M, Krivit, W, Snover, D C, Kersey, J H, Ramsay, N K, Blazar, B R, Whitley, C B

“…Serial liver biopsies were obtained in 20 patients undergoing bone marrow transplantation (BMT) for mucopolysaccharidosis (MPS). The 13 patients with MPS I,…”
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