referencias

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(15)Robert JJ. Métabolisme des hydrates de carbone. En Ricour C, Ghisolfi J, Putet G, Goulet O (eds). Traité de Nutrition Pédiatrique. Paris. Maloine, 1993; pag. 28-32 (16) Boleda M, Girós ML, Briones P, Sanchis A, Álvarez L, Balaguer S, Holton JB. Severe neonatal galactose-dependent disease with low-normal epimerase activity. J Inher Metab Dis 1995; 18: 88-89. (17) Gort L, Boleda MD, Tyfield L, Vilarinho L, Rivera I, Cardoso ML, Santos –Leite M, Girós M, Briones P. Mutational spectrum of classical galactosaemia in Spain and Portugal. J Inher Metab Dis 2006; Oct 13 (Epub ahead of print). (18) 2. Holton JB, Walter JH, Tyfield LA. Galactosemia. En Scriver Ch R, Beaudet A L, Sly W S, Valle D (eds). The metabolic and molecular bases of inherited disease. New York, McGraw Hill, 2001; pag. 1553-1588. (19) Flach JE, Reichard JKU, Elsas LJ II. Sequence of a cDNA encoding human galactose-1-phosphate uridyltransferase. Mol Biol Med 1990;12:596. (20) Reichard JKU, Belmont JW, Levy HL, Lewis AR, Cooper AD. Characterizarion of two missense mutations in human galactose-1-phosphate uridyltransferase. Different molecular mechanism for galactosaemia. Genomics 1992;12:596. (21) NG WG, Lee JS, Dannel GN. Transferase deficiency. Galactosaemia and Duarte Variant. JAMA 1987;257:187 (22) Holton JB, Walter JH, Tyfield LA. Galactosemia. En, The Metabolic and molecular Bases of Inherited Disease, chapter 72, tomo I, 8th, editores Scriver Ch, Beaudet A, Valle D, Sly W, editorial McGraw Hill, Inc., New York, London, 2001, 1553-1588.

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Transcript of referencias

Page 1: referencias

(15)Robert JJ. Métabolisme des hydrates de carbone. En Ricour C, Ghisolfi J, Putet G, Goulet O (eds). Traité de Nutrition Pédiatrique. Paris. Maloine, 1993; pag. 28-32

(16) Boleda M, Girós ML, Briones P, Sanchis A, Álvarez L, Balaguer S, Holton JB. Severe neonatal galactose-dependent disease with low-normal epimerase activity. J Inher Metab Dis 1995; 18: 88-89.

(17) Gort L, Boleda MD, Tyfield L, Vilarinho L, Rivera I, Cardoso ML, Santos –Leite M, Girós M, Briones P. Mutational spectrum of classical galactosaemia in Spain and Portugal. J Inher Metab Dis 2006; Oct 13 (Epub ahead of print).

(18) 2. Holton JB, Walter JH, Tyfield LA. Galactosemia. En Scriver Ch R, Beaudet A L, Sly W S, Valle D (eds). The metabolic and molecular bases of inherited disease. New York, McGraw Hill, 2001; pag. 1553-1588.

(19) Flach JE, Reichard JKU, Elsas LJ II. Sequence of a cDNA encoding human galactose-1-phosphate uridyltransferase. Mol Biol Med 1990;12:596.

(20) Reichard JKU, Belmont JW, Levy HL, Lewis AR, Cooper AD. Characterizarion of two missense mutations in human galactose-1-phosphate uridyltransferase. Different molecular mechanism for galactosaemia. Genomics 1992;12:596.

(21) NG WG, Lee JS, Dannel GN. Transferase deficiency. Galactosaemia and Duarte Variant. JAMA 1987;257:187

(22)  Holton JB, Walter JH, Tyfield LA. Galactosemia. En, The Metabolic and molecular Bases of Inherited Disease, chapter 72, tomo I, 8th, editores Scriver Ch, Beaudet A, Valle D, Sly W, editorial McGraw Hill, Inc., New York, London, 2001, 1553-1588. 

(23)  Sangiuolo F, Magnani M, Stambolian D, Novelli G. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat 2004;23:396-403.  

(24) Baldellou A. Errores congénitos del metabolismo de la galactosa. En, Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias, capítulo 15, eds, Sanjurjo P, Baldellou A, editorial Ergon S.A., Madrid, España, 2001, 173-181. 

(25) Tyfield LA. Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype. Eur J Pediatr 2000;159 Suppl 3:S204-7. 

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(26)  Segal, S. Galactosaemia today: The enigma and the challenge. J Inher Metab Dis 21, 1998, 455-471.

(27)  Beery G, Hunter J, Wang Z, Dreba S, y cols. In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalophathy. J Pediatr 2001;138:260-262.   

(28) Buist, NR, Waggoner, D. Galactosemia: early treatment does not prevent long term problems. En, New Horizons in neonatal screening, editores Farriaux, JP, Dhondt, JL, editorial Elsevier Science B.V., 1994, pp 181 - 184

(29) Schweitzer, S, Shin, Y, Jakobs C, Brodehl, J. Long-term outcome in 134 patients with galactosemia. Eur J Pediatr 1993,152:36 - 43 

(30) Yang YP, Corley N, Garcia-Heras J Molecular analysis in newborns from Texas affected with galactosemia. Hum Mutat 2002 ;19(1):82-3. 

(31) Tyfield LA. Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype. Eur J Pediatr 2000;159 Suppl 3:S204-7. 

(32) Dobrowolski SF, Banas RA, Suzow JG, Berkley M, Naylor EW. Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. J Mol Diagn 2003;5(1):42-7.   

(33)  Elsas, L, Acosta, P. Nutrition support of inherited metabolic disease. En. Modern nutrition in health and disease, capitulo 67,Volumen 2, eds, Shills M,Olson J, Shike M, editorial Lea and Febinger, Philadelphia, Baltimore, USA, 1994, pp 1147- 1206. 

(34) Gropper S, Weese J, West P, Gross K. Free galactose content of fresh fruit and strained fruit and vegetable baby foods: More foods to consider for the galactose-restricted diet. J Am Diet Assoc 2000;100:573-575.   

(35) Hutchesson A, Murdoch -Davis C, Grenn A, Preece M, Allen J, Holton J, Rylance G. Biochemical monitoring of treatment for galactosemia: Biological variability in metabolite concentrations. J Inher Metab Dis 1999;22:39-148.

(36) Kaufman, FR, Ng, WG, Xu, YK, Guidici, T, Kaleita, TA, Donnell, GN. Treatment of patients (PTS) with classical galactosemia (G) with oral uridine. Pediatr Res,1989, 25:124-A.  

(37) Shin S, Korenke GC, Huppke P, Knerr I, Poddskarbi T. UDPGalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation. J Inher Metab Dis 2000;23:383-386. 

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(38) Henderson JM, Huguenin SM, Cowan TM, Fridovich-Keil JL. APCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia. Clin Genet 2001; 60: 350-355 

(39) Elsas, L, Fridovich, F, Leslie, N. Galactosemia. A molecular approach to the enigma. Int Pediatr 1993, 8:101-109. 

(40) Heyman M B. Lactose Intolerance in Infants, Children, and Adolescents. Pediatrics 2006; 118: 1279-1286.

(41) V. F. Moreira y A. López San Román Servicio de Gastroenterología. Hospital Universitario Ramón y Cajal. Madrid

(42) Cryer P, Davis S, Shamoon H. Hypoglycemia in Diabetes. Diabetes Care 26:1902-1912, 2003   

(43) Desouza C, Salazar H, Cheong B, Murgo J, Fonseca V. Association of Hypoglycemia and Card-iac Ischemia. A study based on continuous monitoring. Diabetes Care 26:1485-1489, 2003  

(44) Gill G, Woodward A, Casson I, Weston P. Card-iac Arrhythmia and Nocturnal Hypoglycemia in type 1 Diabetes - The "dead in bed" syndrome revisited. Diabetologia 52:42-45, 2009 

(45)  Holstein A, Egberts E. Risk of hypoglycaemia with oral antidiabetic agents in pat-ients with type 2 diabetes. Exp Clin Endocrinol Diabetes 111:405-14, 2003 

(46) Shalitin S, Moshe P. Diabetes Care, volume 31, supplement 2, February 2008   

(47) Amiel S, Dixon T, Mann R, Jameson K. Hypoglycaemia in Type 2 diabetes. Diab Med 25:245-254, 2008   

(48) Ferrer Rodríguez A, Torres Lacruz M, Rodríguez Hierro F. Hipoglucemia. En: Ferrández A, Pombo M, Rodríguez-Hierro F, Yturriaga R (eds). Algoritmos diagnóstico-terapéuticos en Endocrinología Pediátrica. Madrid: SEMFAR SL, 1997, pp. 235-249.

(49) Gussinyé Cañadel M, Gómez Gila AL, González Díaz JP, Potau Vilalta N. Diagnóstico diferencial de las hipoglucemias En: Sociedad Española de Endocrinología Pediátrica, ed: Guías Diagnóstico-Terapéuticas en Endocrinología Pediátrica, 2004, cap 21, pp. 1- 30 [consulta 7-6-05] en http://www.seep.es/privado/prpubli.htm.

(50) Grumbach MM. A window of opportunity: the diagnosis of gonadotropin deficiency in the male infant. J Clin Endocrinol Metab 2005; 90: 3122-3127.

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(51) Franke B et al. Developments in the prediction of type 1 diabetes mellitus, with special reference to insulin autoantibodies. Diabetes/ Metabolism Research and Reviews. 2005; 21: 395-415.

(52) Valdez SN et al. A radioligand-binding assay for detecting antibodies specific for proinsulin and insulin using 35S-proinsulin. J of Inmunological Methods. 2003; 279: 173-181.

(53) Pozzilli P y Di Mario U. Autoinmune diabetes not requiring insulin at diagnosis (Latent autoinmune diabetes of the adult). Definition, characterization, and potential prevention. Diabetes Care. 2001;  24: 1460-1467.