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Camelia alkhzouz

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https://www.readbyqxmd.com/read/27351199/clinical-and-genetic-characteristics-of-romanian-patients-with-mucopolysaccharidosis-type-ii
#1
Camelia Alkhzouz, Cecilia Lazea, Simona Bucerzan, Ioana Nascu, Eva Kiss, Carmencita Lucia Denes, Paula Grigorescu-Sido
BACKGROUND: Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation...
June 29, 2016: JIMD Reports
https://www.readbyqxmd.com/read/20395657/alterations-in-lipid-and-carbohydrate-metabolism-in-patients-with-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#2
Anca Zimmermann, Paula Grigorescu-Sido, Camelia AlKhzouz, Karen Patberg, Simona Bucerzan, Egbert Schulze, Tim Zimmermann, Heidi Rossmann, Hans-Christian Geiss, Karl J Lackner, Matthias M Weber
BACKGROUND: Classic 21-hydroxylase deficiency (21HD) presents some traits of the metabolic syndrome. AIM: To characterize discrete alterations of lipid and carbohydrate metabolism in children and young adults with classic 21HD, which could predict early atherogenesis. PATIENTS AND METHODS: Twenty-seven Caucasian patients with classic 21HD (4-31 years); 27 sex-, age- and BMI-matched controls. Clinical parameters, hormonal status and genotype were assessed in all patients...
2010: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/20206881/baseline-characteristics-and-outcome-in-romanian-patients-with-gaucher-disease-type-1
#3
Paula Grigorescu-Sido, Cristina Drugan, Camelia Alkhzouz, Anca Zimmermann, Cristina Coldea, Carmen Denes, Mircea Dan Grigorescu, Victoria Cret, Simona Bucerzan
BACKGROUND/AIM: To present clinical and genetic characteristics of all Romanian patients with Gaucher disease type 1, in whom specific diagnosis has been confirmed by enzymatic and molecular methods and to analyze their outcome with and without enzymatic replacement therapy (ERT). PATIENTS, METHODS: There are fifty patients (F/M - 1.63/1) with Gaucher disease type 1. Clinical status, haemoglobin, thrombocytes, hepatic/splenic volume, bone mineral density and severity score were assessed at baseline and every six months thereafter...
April 2010: European Journal of Internal Medicine
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