- Junta de Andalucía

Porfirias
BIBLIOGRAFÍA Bibliografía general Thunell S. Porphyrins, porphyrin metabolism and porphyries. I Update. Scand J Clin Lab Invest 2000; 60: 509‐40. Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, et al. Recommendations for the diagnosis and treatment of the acute porphyries. Ann Intern Med 2005; 142: 439‐50. Kauppinen R. Porphyrias. Lancet 2005; 365:241‐52. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet 2010; 375: 924‐37. Pischki E, Kauppinen R. Neurological manifestation of acute intermittent porphyria. Cell Mol Biol 2009; 55:72‐83. Sassa S.Modern diagnosis and management of the porphyries.Br J Haematol 2006; 135:281‐92. González J, López E, Herrera B, Alfaro J, Navarro C, Chávez G. Porfiria intermitente aguda en el embarazo. An Med (Mex) 2006; 51: 134‐7. Sepúlveda A, Hasbún JF. Porfiria aguda en el embarazo: diagnóstico y manejo. Rev Hosp Clín Univ Chile 2009; 20:167‐73. Andersson C, Innala E, Backstrom T. Acute intermittent porphyria in women: clinical expression, use and experience of exogenous sex hormones. A population‐based study in Northern Sweden. J Intern Med 2003; 254:176‐83. Siegert SW, Holt RJ. Physicoquemical properties, pharmacokinetics, and pharmacodynamics of intravenous hematin: a literature review. Adv Ther 2008; 25: 842‐57. Badminton MN, Elder GH. Management of acute and cutaneous porphyries. Int J Clin Pract 2002; 56: 272‐8. Porfiria. Guía de Familias. Manuales y Guías. Cuadernos Prácticos. IMSERSO, 2004. http://www.porfiria.org http://www.porphyria‐europe.com http://www.drugs‐porphyria.org Bibliografía relacionada con el diagnóstico de laboratorio Zaider E, Bickers DR. Clinical laboratory methods for diagnosis of the porphyrias. Clin Dermatol 1998; 16:277‐93. Hindmarsh J, Oliveras L, Greenway DC. Biochemical differentiation of the porphyrias. Clin Biochem 1999; 32:609‐19. 71
Plan de Atención a Personas Afectadas por Enfermedades Raras de Andalucía
Porfirias
Thunell S. Porphyrins, porphyrin metabolism and porphyrias.I. Update. Scand J Clin Lab Invest 2000; 60:509‐40. Thunell S, Harper P, Brock A, Petersen NE. Porphyrins, porphyrin metabolism and porphyrias. II. Diagnosis and monitoring in the acute porphyrias. Scand J Clin Lab Invest 2000; 60:541‐59. Deacon AC, Elder GH. Front line for the investigation of suspected porphyria. J Clin Pathol 2001; 54:500‐7. Hindmarsh JT. The porphyrias, appropiate test selection. Clin Chim Acta 2003; 333:203‐7. Kouppinen R. Porphyrias. Lancet 2005; 365:241‐52. Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med 2005; 142:439‐50. Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol 2006; 135:281‐92. Poblete‐Gutiérrez P, Wiederholt T, Merk HF, Frank J. The porphyrias: Clinical presentation, diagnosis and treatment. Eur J Dermatol 2006; 16:230‐40. Deybach JC, Badminton M, Puy H, Sandberg S, Frank J, Harper P et al. European Porphyria Initiative (EPI): A platform to develop a common approach to the management of Porphyrias and to promote research in the field. Physiol Res 2006; 55: S67‐S73. Sies C, Florkowski C. A guide to the diagnosis of porphyria: suggested methods and case examples. N Z J Med Lab Sci 2006; 60 (1): 7‐11. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet 2010; 375: 924‐37. Bibliografía relacionada con la rehabilitación Karl E. Anderson, MD; Joseph R. Bloomer, MD; Herbert L. Bonkovsky, MD; James P. Kushner, MD; Claus A. Pierach, MD et al. Recommendations for the Diagnosis and Treatment of the Acute Porphyrias. Ann Intern Med. 2005; 142:439‐450. Lacomis, David. Neuromuscular Disorders in Critically Ill Patients: Review and Update. Journal of Clinical Neuromuscular Disease. 2011; 12(4):197‐218. Romero Cullerés, Ga; García Amejeiras, MªCa; Bori de Fortuny, MªIa. Porfiria aguda intermitente: programa de rehabilitación e impacto en la calidad de vida. Rehabilitación (Madr). 2005; 39(1):25‐8. JY Salle, S Guinvarc'h, M Munoz, G Cresson, S Dauriac, T Sombardie, PJ Dudognon, CL Labrousse. Principios de rehabilitación del síndrome de Guillain‐Barré, de polirradiculopatías y polineuropatías. EMC (Elsevier Masson SAS), Kinesiterapia ‐ Medicina física, 26‐470‐A‐10, 1998
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Plan de Atención a Personas Afectadas por Enfermedades Raras de Andalucía