Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Diana Alasmar"'
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-4 (2024)
Abstract Background Fructose-1,6-bisphosphatase deficiency is a rare autosomal recessive disorder characterized by impaired gluconeogenesis. Fructose-1,6-bisphosphatase 1 (FBP1) mutations demonstrate ethnic patterns. For instance, Turkish populations
Externí odkaz:
https://doaj.org/article/e9d938dc2f764727aec0fd4253db4ec0
Publikováno v:
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-4 (2018)
Abstract Background Cardiovascular manifestations associated with Addison’s disease are previously documented. We described a case of an 11-year-old girl who developed dilated cardiomyopathy as a complication to Addison’s disease. Glucocorticoid
Externí odkaz:
https://doaj.org/article/44e014631f834a86acbba45c3010fac0
Autor:
Diana Alasmar
Publikováno v:
Annals of Saudi Medicine, Vol 35, Iss 2, Pp 127-132 (2015)
BACKGROUND AND OBJECTIVES: Gaucher disease (GD) is caused by the deficiency of glucosidase beta acid (GBA). Three clinical forms of GD are available. Some mutations in the GBA gene have a high frequency in specific populations. The aim of this study
Externí odkaz:
https://doaj.org/article/828d3d550c7042df99b7408589ae5a25
Publikováno v:
Avicenna Journal of Medicine, Vol 04, Iss 03, Pp 74-76 (2014)
Kenny-Caffey syndrome type 1 is a rare hereditary skeletal disorder. We present here a documented case of a 7-month-old girl with the characteristic symptoms of growth retardation, dysmorphic features, and hypoparathyroidism.
Externí odkaz:
https://doaj.org/article/ea2f9fb7c58148009571390a3fa3e3a0
Publikováno v:
Annals of Medicine & Surgery.
Publikováno v:
Annals of Medicine and Surgery
Introduction Hajdu Cheney Syndrome (HCS) is a rare genetic disorder characterized by skeletal deformities such as acroosteolysis, osteoporosis, unique craniofacial features, and other systemic abnormalities. This syndrome is caused by NOTCH2 gene mut
Publikováno v:
Oxford Medical Case Reports
Warburg Micro syndrome is a rare autosomal recessive disease due to mutation in the RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. It is commonly seen in consanguineous marriages, characterized by optic (microcornea, microphthalmia, congenital cataract
Publikováno v:
Avicenna Journal of Medicine
Avicenna Journal of Medicine, Vol 04, Iss 03, Pp 74-76 (2014)
Avicenna Journal of Medicine, Vol 04, Iss 03, Pp 74-76 (2014)
Kenny-Caffey syndrome type 1 is a rare hereditary skeletal disorder. We present here a documented case of a 7-month-old girl with the characteristic symptoms of growth retardation, dysmorphic features, and hypoparathyroidism.
Publikováno v:
Qatar Medical Journal
Background: Organic acidemias (OA) are a group of heterogeneous metabolic inherited disorders characterized by the accumulation of organic acids in body fluids and tissues. These are rare disorders and infrequently reported worldwide. In Syria, there
Publikováno v:
Gene. 528(2)
Characterization of the molecular basis of phenylketonuria (PKU) in Syria has been accomplished through the analysis of 78 unrelated chromosomes from 39 Syrian patients with PKU. Phenylalanine hydroxylase (PAH) gene mutations have been analyzed by us