2012, Number 2
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Ciencia UG 2012; 2 (2)
Reporte de un caso: Atrofia espinal tipo I (Síndrome de Werdnig - Hoffmann)
Colin GC, Godínez HA, Orozco VV
Language: Spanish
References: 16
Page: 16-18
PDF size: 584.23 Kb.
Text Extraction
No Abstract
REFERENCES
1.- McKusick VA. Mendeliam Inheritance in man. Catalogs of autosomal dominant, autosomal recessive, and X linked phenotypes. 11ed. Baltimore: John Hopkins University; 1996.
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10.- Rudnik-Schöneborn S, Stolz P, Varon R, Grohmann K, Schächtele M, Ketelsen UP, et al. Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1. Neuropediatrics 2004;35(3):174-82.
11.- Nutman J, Nitzan M, Grünebaum M. Swallowing disturbances in Werdnig-Hoffmann disease. Harefuah 1981;101(11):301-3.
12.- Bono R, Inverno M, Botteon G, Iotti E, Estienne M, Berardinelli A, et al. Prospective study of gross motor development in children with SMA type II. Ital J Neurol Sci 1995;16(4):223-30.
13.- Dubowitz V. Muscle disorders in childhood. Major Probl Clin Pediatr. 1978;16:1-282.
14.- Scheffer H. Spinal muscular atrophy. Methods Mol Med 2004; 92:343-58.
15.- Boda B, Mas C, Giudicelli C, Nepote V, Guimiot F, Levacher B, et al. Survival motor neuron SMN 1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells. Eur J Hum Genet 2004;12(9):729-24.
16.- Migita M, Migita M, Uchikoba Y, Orimo H, Shimada T, Shimada T, et al. Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis. J Nippon Med Sch 2003; 70(1):45-8.