Zobrazeno 1 - 10
of 118
pro vyhledávání: '"Noonan′s syndrome"'
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 17, Iss 5, Pp 794-798 (2013)
Noonan Syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical face dysmorphology, and congenital heart defects. NS is a clinical diagnosis. Establishing the diagnosis can be very difficult, especially in adulthood. Th
Externí odkaz:
https://doaj.org/article/f0ff6f712ab649c28715492c49ef9bce
Autor:
Goutham Akidi
Publikováno v:
Indian Journal of Cardiovascular Disease in Women, Vol 04, Iss 02, Pp 095-098 (2019)
Fabry’s disease is caused by progressive lysosomal accumulation of neutral glycosphingolipids, primarily globotriaosylceramide. It results from deficiency of the enzyme α-galactosidase A, which is encoded by GLA on the X chromosome. Usually it pre
Publikováno v:
Western Journal of Emergency Medicine, Vol 14, Iss 2, Pp 175-176 (2013)
None
Externí odkaz:
https://doaj.org/article/00f96640f43b40eb909a9356b129cd85
Publikováno v:
Journal of V. N. Karazin Kharkiv National University: Series Medicine, Iss 31, Pp 66-69 (2016)
The clinical case an adult patient with rare genetically heterogeneous disorder combine with congenital heart diseases and multiple stigmas of disembryogenesis, currently presenting mostly with signs of pulmonary hypertension have been reviewed. Pati
Autor:
Sorcha Allen, Matthew A. Zarka, Farouk Mookadam, Christopher P. Beauchamp, Craig B. Reeder, Mark J. Kransdorf
Publikováno v:
International Journal of Surgery Case Reports
Highlights • Hemophilic pseudotumor is a rare complication of Hemophilia A and B. • Diagnosis requires a high index of suspicion-especially in non-hemophilic patients. • Radiographic findings are similar to that of malignant tumors. • Surgica
Autor:
Lucy Pons Castro, Teresita de J. Méndez Sánchez, Rosa Maria Naranjo, Alejandro Arias Díaz, Mavys Soto García, Mirta Silveira Simón
Publikováno v:
Revista Cubana de Oftalmología, Vol 22, Iss 1, p 0 (2009)
Se presentan las características oftalmológicas y clínicas de dos pacientes hermanos (hembra y varón) con diagnóstico del síndrome de Noonan. Este es un trastorno genético que produce desarrollo anormal de múltiples partes del cuerpo. Se cara
Externí odkaz:
https://doaj.org/article/d2d394a441eb449fb9f744e210d8620d
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 17, Iss 5, Pp 794-798 (2013)
Indian Journal of Endocrinology and Metabolism
Indian Journal of Endocrinology and Metabolism
Noonan Syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical face dysmorphology, and congenital heart defects. NS is a clinical diagnosis. Establishing the diagnosis can be very difficult, especially in adulthood. Th
Autor:
Julianis Loraine Quintero Noa, Débora Aleida García Martínez, María del Carmen Hernández Cordero, Lidia Báez Allende, Orlando Valls Pérez
Publikováno v:
Revista Cubana de Pediatría, Vol 82, Iss 3, Pp 62-68 (2010)
Se calcula que el 50 % de los casos de sordera profunda en la infancia puede ser de origen genético. Se presenta el caso de un niño de 9 años, atendido en los Servicios de Otorrinolaringología y Genética del Hospital Pediátrico Docente «Willia
Akademický článek
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Autor:
Cristina Digilio, M., Giuseppe, Pacileo, Anna, Sarkozy, Giuseppe, Limongelli, Emanuela, Conti, Fabiana, Cerrato, MARINO TAUSSIG DE BODONIA, Bruno, Pizzuti, Antonio, Calabro', R., Bruno, Dallapiccola
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 70(2)
BACKGROUND: Nonsyndromic hypertrophic cardiomyopathy (HCM) is a primary cardiac disease transmitted as an autosomal dominant trait. Multiple chromosomal loci have been found to be involved in the etiology of this defect. LEOPARD syndrome is a genetic