1.
Br J Anaesth
; 113(2): 301-3, 2014 Aug.
Artículo
en Inglés
| MEDLINE
| ID: mdl-25038166
Asunto(s)
Análisis de los Gases de la Sangre , Malformaciones Vasculares del Sistema Nervioso Central/diagnóstico , Malformaciones Vasculares del Sistema Nervioso Central/metabolismo , Válvula Aórtica/cirugía , Cateterismo Venoso Central , Catéteres Venosos Centrales , Ecocardiografía Transesofágica , Femenino , Implantación de Prótesis de Válvulas Cardíacas , Humanos , Persona de Mediana Edad , Vena Cava Superior/anomalías
2.
Eur J Pediatr
; 126(3): 155-61, 1977 Oct 12.
Artículo
en Inglés
| MEDLINE
| ID: mdl-144057
RESUMEN
beta-glucuronidase deficiency in fibroblasts, leucocytes and in serum and increased urinary excretion of mucopolysaccharides were found in a girl, now 13 years old, who exhibits some features of a mucopolysaccharidosis such as moderate mental deficiency, craniofacial dysmorphism, a short neck, protruding sternum, vertebral deformities and corneal clouding. Coarse granulations were found in her leucocytes. The liver and spleen are not enlarged and there is no gingival hyperplasia. Additional features, hitherto undescribed, are hydronephrosis and defective ossification of the medial carpal and tarsal bones. Low enzyme activity in the parents and a normal brother suggests heterozygosity.