Search Results - "Moses, Shimon"

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies by Moses, Shimon W, Parvari, Ruti

“…Glycogen storage disease type IV (GSD-IV), also known as Andersen disease or amylopectinosis (MIM 23250), is a rare autosomal recessive disorder caused by a…”
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The percentage of patients achieving PASI 75 after 1 month and remission time after climatotherapy at the Dead Sea by Harari, Marco, Novack, Lena, Barth, Joachim, David, Michael, Friger, Michael, Moses, Shimon W.

“…Background  Dead Sea climatotherapy (DSC) is a highly effective treatment for psoriasis; however, there are scanty data concerning the duration of post‐therapy…”
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Historical highlights and unsolved problems in glycogen storage disease type 1 by Moses, Shimon W

“…Thirty-three years after Von Gierke described the first patient with glycogen storage disease type 1 (GSD1) in 1929, the Coris detected glucose-6-phosphatase…”
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Impact of descent and stay at a Dead Sea resort (low altitude) on patients with systolic congestive heart failure and an implantable cardioverter defibrillator by Gabizon, Isack, Shiyovich, Arthur, Novack, Victor, Khalameizer, Vladimir, Yosefy, Chaim, Moses, Shimon W, Katz, Amos

“…As the lowest natural site on earth (-415 meters), the Dead Sea is unique for its high pressure and oxygen tension in addition to the unparalleled combination…”
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Historical highlights and unsolved problems in glycogen storage disease type 1 by Moses, Shimon

“…Thirty-three years after Von Gierke described the first patient with glycogen storage disease type 1 (GSD1) in 1929, the Coris detected glucose-6-phosphatase…”
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The Dead Sea, a unique natural health resort by Moses, Shimon W, David, Michael, Goldhammer, Ehud, Tal, Asher, Sukenik, Shaul

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Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases by Burwinkel, Barbara, Hu, Bin, Schroers, Anja, Clemens, Paula R, Moses, Shimon W, Shin, Yoon S, Pongratz, Dieter, Vorgerd, Matthias, Kilimann, Manfred W

“…Muscle-specific deficiency of phosphorylase kinase (Phk) causes glycogen storage disease, clinically manifesting in exercise intolerance with early…”
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Inactivation of the Glucose 6-Phosphate Transporter Causes Glycogen Storage Disease Type 1b by Hiraiwa, H, Pan, C J, Lin, B, Moses, S W, Chou, J Y

“…Glycogen storage disease type 1b (GSD-1b) is proposed to be caused by a deficiency in microsomal glucose 6-phosphate (G6P) transport, causing a loss of…”
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Neurophysiologic studies in congenital insensitivity to pain with anhidrosis by Shorer, Zamir, Moses, Shimon W, Hershkovitz, Eliahu, Pinsk, Vered, Levy, Jacov

“…Thirteen patients with congenital insensitivity to pain and anhidrosis, carrying a mutation at the TRK-A gene, were studied. Neurologic examination revealed…”
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A Single-Base Deletion in the 3'-Coding Region of Glycogen-Debranching Enzyme Is Prevalent in Glycogen Storage Disease Type IIIA in a Population of North African Jewish Patients by Parvari, Ruti, Moses, Shimon, Shen, Jianjun, Hershkovitz, Eli, Lerner, Aaron, Chen, Yuan-Tsong

“…Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen-debranching enzyme (AGL). The overall…”
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Efectos saludables de la Climatoterapia del Mar Muerto en pacientes con enfermedades cardíacas y pulmonares by W. Moses, Shimon

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Health Effects of Dead Sea Climatotherapy on Patients with Heart and Lung Diseases/Efectos saludables de la Climatoterapia del Mar Muerto en pacientes con enfermedades cardíacas y pulmonares by Moses, Shimon W

“…The Dead Sea (Sea of Salt in Hebrew), the lowest saline lake on earth, contains high concentrations of salts and is a reservoir of minerals with a unique…”
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Glycogen storage disease type III in Israel: presentation and long-term outcome by Hershkovitz, Eli, Forschner, Itay, Mandel, Hanna, Spiegel, Ronen, Lerman-Sagie, Tally, Anikster, Yair, Zeharia, A, Moses, Shimon

“…Glycogen storage disease type III (GSD III) was found in the past with an unusual frequency among North African Jews in Israel. The aim of this study was to…”
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Pathophysiology and Dietary Treatment of the Glycogen Storage Diseases by Moses, Shimon W.

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Hexose uptake and transport in polymorphonuclear leukocytes from patients with glycogen storage disease Ib by Potashnik, R, Moran, A, Moses, S W, Peleg, N, Bashan, N

“…Neutrophil functions and glucose metabolism are known to be impaired in glycogen storage disease (GSD) Ib patients. The uptake of nonmetabolizing glucose…”
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Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European Study on Glycogen Storage Disease Type I by Visser, Gepke, Rake, Jan-Peter, Fernandes, John, Labrune, Philippe, Leonard, James V., Moses, Shimon, Ullrich, Kurt, Smit, G.Peter A.

“…Objective: To investigate the incidence, the severity, and the course of neutropenia, neutrophil dysfunction, and inflammatory bowel disease (IBD) in glycogen…”
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The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome by SANTER, René, GROTH, Sebastian, SCHNEPPENHEIM, Reinhard, STEINMANN, Beat, SCHAUB, Jürgen, KINNER, Martina, DOMBROWSKI, Anja, BERRY, Gerard T, BRODEHL, Johannes, LEONARD, James V, MOSES, Shimon, NORGREN, Svante, SKOVBY, Flemming

“…We report a total of 23 novel mutations of the SLC2A2 ( GLUT2) gene in 49 patients with a clinical diagnosis of Fanconi-Bickel syndrome (FBS). Molecular…”
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Dexamethasone and salbutamol in the treatment of acute wheezing in infants by Tal, A, Bavilski, C, Yohai, D, Bearman, J E, Gorodischer, R, Moses, S W

“…Thirty-two infants, aged 1 to 12 months, hospitalized with acute wheezing, were studied. They were randomly divided into four treatment groups of eight…”
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A Recessive Contiguous Gene Deletion of Chromosome 2p16 Associated with Cystinuria and a Mitochondrial Disease by Parvari, Ruti, Brodyansky, Irena, Elpeleg, Orly, Moses, Shimon, Landau, Daniel, Hershkovitz, Eli

“…Deletions ranging from 100 Kb to 1 Mb—too small to be detected under the microscope—may still involve dozens of genes, thus causing microdeletion syndromes…”
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Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter by Chen, Li-Yuan, Shieh, Jeng-Jer, Lin, Baochuan, Pan, Chi-Jiunn, Gao, Ji-Liang, Murphy, Philip M., Roe, Thomas F., Moses, Shimon, Ward, Jerrold M., Lee, Eric J., Westphal, Heiner, Mansfield, Brian C., Chou, Janice Yang

“…Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosphate transporter (G6PT). In addition to disrupted glucose…”
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