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1 История, основные понятия 8. Диссертация на соискание ученой степени кандидата медицинских наук Научные руководители д м. н., профессор Л. В. Чистова д м. н., профессор М. И. Баканов


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НазваниеДиссертация на соискание ученой степени кандидата медицинских наук Научные руководители д м. н., профессор Л. В. Чистова д м. н., профессор М. И. Баканов
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. Crigler JF Jr, Folkman J. Glycogen storage disease: new approaches to therapy. Hepatotrophic Factors. Ciba Foundation Symposium 55. New York: Elsevier; 1978;331-55.

103. Chen YT, Cornblath M, Sidbury JB. Cornstarch therapy in type 1 glycogen storage disease. N Engl J Med. 1984;310:171-3.

104. Wolfsdorf JI, Plotkin RA, Laffel LM, Crigler JF Jr. Continuous glucose for treatment of patients with type 1 glycogen-storage disease: comparison of the effects of dextrose and uncooked cornstarch on biochemical variables. Am J Clin Nutr. 1990;52:1043-50.

105. Wolfsdorf JI, Rudlin CR, Crigler JF Jr. Physical growth and development of children with type 1 glycogen-storage disease: comparison of the effects of long-term use of dextrose and uncooked cornstarch. Am J Clin Nutr. 1990;52:1051-7.[

106. Wolfsdorf JI, Keller RJ, Landy H, Crigler JF Jr. Glucose therapy for glycogenosis type 1 in infants: comparison of intermittent uncooked cornstarch and continuous overnight glucose feedings. J Pediatr. 1990;117:384-91.

107. Wolfsdorf JI, Ehrlich S, Landy HS, Crigler JF Jr. Optimal daytime feeding regimen to prevent postprandial hypoglycemia in type 1 glycogen storage disease. Am J Clin Nutr. 1992;56:587-92.

108. Wolfsdorf JI, Crigler JF. Biochemical evidence for the requirement of continuous glucose therapy in young adults with type 1 glycogen storage disease (Abstract). Pediatr Res. 1992;31:190A.

109. Soejima K, Landing BH, Roe TF, Swanson VL. Pathologic studies of the osteoporosis of Von Gierke's disease (glycogenosis 1a). Pediatr Pathol. 1985;3:307-19.

110. Grossman H, Ram PC, Coleman RA, Gates G, Rosenberg ER, Bowie JD, et al. Hepatic ultrasonography in type I glycogen storage disease (Von Gierke disease). Detection of hepatic adenoma and carcinoma. Radiology. 1981;141:753-6.

111. Parker P, Burr I, Slonim A, Ghishan FK, Greene H. Regression of hepatic adenomas in type Ia glycogen storage disease with dietary therapy. Gastroenterology 81;534-6.

112. Brown BI. Diagnosis of glycogen storage disease. In: Wapnir RA, ed. Congenital Metabolic Diseases, Diagnosis and Treatment. New York: Marcel Dekker, Inc; 1985:227-50.

113. Labrune PH, Huguet P, Odievre M. Cardiomyopathy in glycogen-storage disease type III: clinical and echographic study of 18 patients. Pediatr Cardiol. 1991;12:161-3.

114. Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science. 1993;262:580.

115. Alaupovic P, Fernandes J (1985) The serum apolipoprotein profile of patients withglucose-6-phosphatase deficiency. Pediatr Res 19:380-384

116 Amine EK, Hegstedt DM (1971) Effect of diet on iron absorption in iron-deficientrats. J Nutr 101:927-936

117. Anonymous (1987) Diets in various types of hypoglycaemia including glycogen storage disease, leucine-sensitive hypoglycaemia and ketotic hypoglycaemia. In:Francis DEM (ed) Diets for sick children. 4th ed. Blackwell Scientific Publications,Oxford, pp 348-351

118. Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, MosesSW, Parvari R, Hershkovitz E, Mandel H, Fryman M, Chou JY (1998) The gene for glycogen-storage disease type 1b maps to chromosome 11q23. Am J Hum Genet 62:400-405

119. Arion WJ, Wallin BK, Lange AJ, Ballas LM (1975) On the involvement of a glucose-6-phosphate transport system in the function of microsomal glucose-6-phosphatase. Mol Cell Biochem 6:75-83

120 Arion WJ, Canfield WK, Callaway ES, Burger HJ, Hemmerle H, Schubert G, Herling AW, Oekonomopulos R (1998) Direct evidence for the involvement of two glucose6-phosphate-binding sites in the glucose-6-phosphatase activity of intact liver microsomes. Characterization of T1, the microsomal glucose 6-phosphate transport protein by a direct binding assay. J Biol Chem 273:6223-6227.

121 Bandsma RHJ, Rake JP, Visser G, Neese RA, Hellerstein MK, van Duyvenvoorde W,Princen HMG, Stellaard F, Smit GPA, Kuipers F (2002) Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a. J Pediatr 140:256-260

122 Bandsma RHJ, Smit GPA, Kuipers F (2002) Disturbed lipid metabolism in glycogen storage disease type 1. Eur J Pediatr 161[suppl1]:s65-s69.

123.Baker L, Kern EFO, Olshan J, Goldfarb S, Dahlem ST (1988) Pilot study of captopril in patients with renal disease associated with glycogen storage disease, type I (GSD-I). Pediatr Res 23:338A

124. Baker L, Dahlem S, Goldfarb S, Kern EF, Stanley CA, Egler J, Olshan JS, Heyman S (1989) Hyperfiltration and renal disease in glycogen storage disease, type I. Kidney Int 35:1345-1350

125.Beaty RM, Jackson M, Peterson D, Bird A, Brown T, Benjamin DK, Juopperi T,Kishnani P, Boney A, Chen YT, Koeberl DD (2002) Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors. Gene Ther 9:1015-1022

126 Bianchi L (1993) Glycogen storage disease I and hepatocellular tumours. Eur J Pediatr 152[suppl1]:s63-s70.

127 Brix A, Howerth E, McConkie-Rosell A, Peterson D, Egnor D, Wells M, Chen YT (1995) Glycogen storage disease type Ia in two littermate maltese puppies. Vet Pathol 32:460-465

128 Chatelain F, Pegorier JP, Minassian C, Bruni N, Tarpin S, Girard J, Mithieux (1998) Development and regulation of glucose-6-phosphatase gene expression in rat liver, intestine, and kidney. Diabetes 47:882-889

129 Chen PY, Csutora P, Veyna-Burke NA, Marchase RB (1998) Glucose-6-phosphate and Ca+2 sequestration are mutually enhanced in microsomes from liver, brain and heart. Diabetes

130 Chen YT, Cornblath M, Sidbury JB (1984) Cornstarch therapy in type I glycogenstorage disease. N Engl J Med 310:171-175.

131 Chen YT, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB (1988) Renal disease in type I glycogen storage disease. N Engl J Med 318:7-11

133 Chen YT, Scheinman JI, Park HK, Coleman RA, Roe CR (1990) Amelioration of

proximal renal tubular dysfunction in type I glycogen storage disease with dietary

therapy. N Engl J Med 323:590-593

134. Chen YT (1991) Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment. Pediatr Nephrol 5:71-76

135 Chen YT, Bazarre CH, Lee MM, Sidbury JB, Coleman RA (1993) Type I glycogen storage disease: nine years of management with cornstarch. Eur J Pediatr 152[suppl1]:s56-s59

136 Chen YT (2001) Glycogen Storage Diseases. In: Scriver CR, Beaudet AL, Sly WS,Valle D (eds) The metabolic and molecular bases of inherited disease. 8th ed. McGraw-Hill, New York, pp 1521-1551 21a Chou JY (2001) Molecular basis of type 1 glycogen storage disease. Curr Mol Med 1:25-44

137 Chou JY, Zingone A, Pan CJ (2002) Adenovirus-mediated gene therapy in a mouse model of glycogen storage disease type 1a. Eur J Pediatr 161[suppl1]:s56-s61

138 Collins JE, Bartlett K, Leonard JV, Aynsley-Green A (1990) Glucose production rates in type 1 glycogen storage disease. J Inherit Metab Dis 13:195-206

139 Conti JA, Kemeny N (1992) Type Ia glycogenosis associated with hepatocellular carcinoma. Cancer 69:1320-1322

140. Corby DG, Putnam CW, Greene HL (1974) Impaired platelet function in glucose-6-phosphatase deficiency. J Pediatr 85:71-76

141. Dдublin G, Schwahn B, Wendel U (2002) Type I glycogen storage disease: favorable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence. Eur J Pediatr 161[suppl1]:s40-s45

142 .Dieckgraefe BK, Korzenik JR, Husain A, dieruf L (2002) Association of glycogen storage disease 1b and Crohn disease: results of a North American survey. Eur J Pediatr 161[suppl1]:s88-s92

143. Dijk van T, Sluijs van der FH, Wiegman CH, Baller JFW, Gustafson LA, Burger HJ,Herling AW, Kuipers F, Meijers AJ, Reijngoud DJ (2001) Acute inhibition of hepatic glucose-6-phosphatase does not affect gluconeogenesis but directs gluconeogenic flux towards glycogen in fasted rats. J Biol Chem 276:25727-25735

144. Dijk van T, Boer TS, Havinga R, Stellaard F, Kuipers F, Reijngoud DJ (2003) Measurement of hepatic glucose metabolism in conscious mice using serial blood and urine spots. (submitted)

145. Emmett M, Narins RG (1978) Renal transplantation in type I glycogenosis. Failure to improve glucose metabolism. JAMA 239:1642-1644

146. Faivre L, Houssin D, Valayer J, Brouard J, Hadchouel M, Bernard O (1999) Longterm outcome of liver transplantation in patients with glycogen storage disease type Ia. J Inherit Metab Dis 22:723-732

147. Fernandes J, Pikaar NA (1969) Hyperlipemia in children with liver glycogen storage disease. Am J Clin Nutr 22:617-627

149. Fernandes J (1974) The effect of disaccharides on the hyperlactacidaemia of glucose-6-phosphatase-deficient children. Acta Paediatr Scand 63:695-698

150. Fernandes J, Berger R ,Smit GPA (1984) Lactate as a cerebral metabolic fuel for glucose-6-phosphatase deficient children. Pediatr Res 19:335-339

151. Fernandes J, Smit GPA, Berger R (1988) Outcome of the treatment of glycogen storage disease. Acta Paediatr Jpn 30:457-461

152. Fernandes J, Alaupovic P, Wit JM (1989) Gastric drip feeding in patients with glycogen storage disease type I: its effects on growth and plasma lipids and apolipoproteins. Pediatr Res 25:327-331

153. Fernandes J, Smit GPA (2000) The Glycogen-storage diseases. In: Fernandes J,Saudubray JM, Berghe G van den (eds) Inborn metabolic diseases. 3rd ed. SpringerVerlag, Berlin, pp 85-101

154. Field JB, Epstein S, Egan T (1965) Studies in glycogen storage disease I. Intestinal glucose-6-phosphatase activity in patients with von Gierke’s disease and their parents. J Clin Invest 7:1240-1247

155.Fine RN, Kogut MD, Donnell GN (1969) Intestinal absorption in type I glycogen storage disease. J Pediatr 75:632-635

156. Forget PP, Fernandes J, Begemann PH (1974) Triglyceride clearing in glycogen storage disease. Pediatr Res 8:114-119

157. Foster JD, Nordlie RC (2002) The biochemistry and molecular biology of the glucose-6-phosphatase system. Exp Biol Med 227:601-608

158.Frost HM, Schonau E (2000) The “muscle-bone unit” in children and adolescents: 2000 overview. J Pediatr Endocrinol Metab 13:571-590

159.Gansevoort RT, de Zeeuw D, de Jong PE (1995) Additive antiproteinuric effect of ACE inhibition and a low-protein diet in human renal disease. Nephrol Dial Transplant 10:497-504

160. Gansevoort RT, de Zeeuw D, de Jong PE (1996) ACE inhibitors and proteinuria.Pharm World Sci 18:204-210

161.Gansevoort RT, Navis GJ, Wapstra FH, de Jong PE, de Zeeuw D (1997) Proteinuria and progression of renal disease: therapeutic implications. Curr Opin Nephrol Hypertens 6:133-140

162.Gerin I, Veiga-da-Cuncha M, Achouri Y, Collet JF, Van Schaftingen E (1997) Sequence of a putative glucose-6-phosphate translocase mutated in glycogen storage disease type Ib. FEBS Lett 419:235-238

163. Gierke E von (1929) Hepato-nephromegalia glycogenica Glykogenspeicherkrankheit der leber und nieren. Beitr z Path Anat u z allg Path 82:497-513

164. Gitzelmann R, Bosshard NU (1993) Defective neutrophil and monocyte functions in glycogen storage disease type 1b: a literature review. Eur J Pediatr152[supll1]:s33-s38 

165 Gitzelmann R, Spycher MA (1993) Oral cornstarch therapy: is persorption harmless? Eur J Pediatr 152:592-594

166.Goans RE, Weiss GH, Vieira NE, Sidbury JB, Abrams SA, Yergey AL (1996) Calcium kinetics in glycogen storage disease type 1a. Calcif Tissue Int 59:449-453

167. Goldstein JL, Hobbs HH, Brown MS (1994) Familial ypercholesterolemia. In:Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. 7th ed. McGraw-Hill, New York, pp 1981-2030

168. Greene HL, Slonim AE, O’Neill JA, Burr IM (1976) Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease. N Engl J Med 294:423-425

169. Greene HL, Swift LL, Knapp HR (1991) Hyperlipidemia and fatty acid composition in patients treated for type IA glycogen storage disease. J Pediatr 398-403

170. Hahn-Ullrich H, Sciuk J, Bartenstein P, Kreysing P, Ullrich K (1993) Effective renal plasma flow in patients with

171 Greene HL, Swift LL, Knapp HR (1991) Hyperlipidemia and fatty acid composition in patients treated for type IA glycogen storage disease. J Pediatr 119:398-403

172.Hahn-Ullrich H, Sciuk J, Bartenstein P, Kreysing P, Ullrich K (1993) Effective renal plasma flow in patients with glycogen storage disease type I. Eur J Pediatr 152:674-676

173.Hamaoka K, Nakagawa M, Furukawa N, Sawada T (1990) Pulmonary hypertension in type I glycogen storage disease. Pediatr Cardiol 11:54-56

174. Harris JC (2000) Psychosocial care of the child and family. In: Fernandes J, Saudubray JM, Berghe G van den (eds) Inborn metabolic diseases. 3rd ed. Springer Verlag, Berlin, pp 63-74

175. Hayde M, Widhalm K (1990) Effects of cornstarch treatment in very young children with type I glycogen storage disease. Eur J Pediatr 149:630-633

176. Hemmerle H, Burger HJ, Below P, Schubert G, Rippel R, Schindler PW, Paulus E,Herling AW (1997) Chlorogenic acid and synthetic chlorogenic acid derivates: novel inhibitors of hepatic glucose-6-phosphate translocase. J Med Chem 40 :137-145

177. Hemrika W, Wever R (1997) A new model for the membrane topology of glucose-6-phosphatase: the enzyme involved in von Gierke disease. FEBS letters 409:317-319

178. Herling AW, Burger HJ, Schwab D, Hemmerle H, Below P, Schubert G (1998)Pharmacodynamic profile of a novel inhibitor of the hepatic glucose-6-phosphatase system. Am J Physiol 274:G1087-G 1093

179. Hodgson HJ (1998) Pathogenesis of Crohn’s disease. Baillieres Clin Gastroenterol 12:1-17

180. Hutton RA, Macnab AJ, Rivers RPA (1976) Defect of platelet function associated with chronic hypoglycemia. Arch Dis Child 51:49-55

181. Humbert M, Labrune P, Simonneau (2002) Severe pulmonary hypertension in type 1 glycogen storage disease. Eur J Pediatr 161[suppl1]:s93-s96

183. Iida S, Matsuoka K, Inoue M, Tomiyasu K, Noda S (2003) Calcium nephrolithiasis and distal tubular acidosis in type 1 glycogen storage disease. Int J Urol 10:56-58

184. Kalderon B, Korman SH, Gutman A, Lapidot A (1989) Glucose recycling and production in glycogenosis type I and III: stable isotope technique studies. Am J Physiol 257:E346-E353

185. Kane JP, Havel RJ (1994) Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. 7th ed. McGraw-Hill, New York, pp 1872-1885

186. Kast RE (2002) Acarbose related diarrhea: increased butyrate upregulates

prostaglandin E. Inflamm Res 51:117-118

189. Keane W, Kasiske B, O’Donell M (1988) Hyperlipidemia and the progression of renal disease. Am J Clin Nutr 47:157-160

190. Koestinger A, Gillet M, Chiolero R, Mosimann F, Tappy L (2000) Effect of liver transplantation on hepatic glucose metabolism in a patient with type I glycogen storage disease. Transplantation 69:2205-2207 disease. Sci 45:1121-1129

191. Kuijpers TW, Maianski NA, Tool AT, Smit GPA, Rake JP, Roos D, Visser G (2003) Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD 1b). Blood (in press) for glycogen storage disease type 1a. Lancet 359:317-318.


1Примечание. Все биохимические показатели крови приведены с учетом наиболее часто применяемых методов исследования. Колебания отдельных показателей в относительно широких пределах связаны с применением различных методов и технологий.

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