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C. al-khzouz

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https://www.readbyqxmd.com/read/25581745/the-c-301_302delag-prop1-gene-mutation-in-romanian-patients-with-multiple-pituitary-hormone-deficiency
#1
Cecilia Lazea, Paula Grigorescu-Sido, Radu Popp, Marie Legendre, Serge Amselem, Camelia Al-Khzouz, Simona Bucerzan, Victoria Creţ, Mirela Crişan, Cristian Brad
OBJECTIVE: To establish the frequency of the c.301_302 delAG mutation of the PROP1 gene in Romanian patients with multiple pituitary hormone deficiency (MPHD). SUBJECTS AND METHODS: Somatic assessment, hormonal test, bone age, magnetic resonance imaging of the pituitary gland, and molecular diagnosis were performed in 26 patients with MPHD (7 patients with familial form of MPHD and 19 patients with sporadic form of MPHD). RESULTS: The c.301_302delAG mutation was detected in the homozygous state in 10 patients belonging to 5 unrelated families (7 patients with familial history of MPHD and 3 patients with sporadic form of MPHD)...
September 2015: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/22976766/dynamic-changes-of-lipid-profile-in-romanian-patients-with-gaucher-disease-type-1-under-enzyme-replacement-therapy-a-prospective-study
#2
Anca Zimmermann, Paula Grigorescu-Sido, Heidi Rossmann, Karl J Lackner, Cristina Drugan, Camelia Al Khzouz, Simona Bucerzan, Ioana Naşcu, Tim Zimmermann, Daniel Leucuţa, Matthias M Weber
BACKGROUND: Dyslipidemia in Gaucher disease includes reduced total, low-density lipoprotein (LDL)-, and high-density lipoprotein (HDL)-cholesterol (C). No prospective analysis of lipid profile changes in treatment-naïve patients under enzyme replacement therapy (ERT) is available. METHODS: We analyzed lipid profile changes during ERT in a prospective controlled manner. Twelve treatment-naïve patients, Gaucher disease type 1 (GD1), 29.5 ± 12.9 years, 4M/8F. Diagnosis was made by enzymatic measurement and mutational analysis...
May 2013: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/20096468/prevalence-of-the-c-35delg-and-p-w24x-mutations-in-the-gjb2-gene-in-patients-with-nonsyndromic-hearing-loss-from-north-west-romania
#3
C Lazăr, R Popp, A Trifa, C Mocanu, G Mihut, C Al-Khzouz, E Tomescu, I Figan, P Grigorescu-Sido
OBJECTIVE: In Central and South-Eastern European countries, the most frequent mutation types responsible for congenital nonsyndromic sensorineural hearing loss (NSHL) are c.35delG and p.W24X (15-55.8% and 2.5-4.3%, respectively). The aim of the study was to determine for the first time in Romania the prevalence of c.35delG and p.W24X mutations in patients with NSHL. MATERIAL: 75 unrelated children with NSHL from Transylvania (North-West Romania). METHODS: a...
April 2010: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/19170706/bone-mineral-density-and-bone-turnover-in-romanian-children-and-young-adults-with-classical-21-hydroxylase-deficiency-are-influenced-by-glucocorticoid-replacement-therapy
#4
Anca Zimmermann, Paula Grigorescu Sido, Egbert Schulze, Camelia Al Khzouz, Cecilia Lazea, Cristina Coldea, Matthias M Weber
OBJECTIVE: It remains controversial if glucocorticoid replacement therapy impairs bone mineral density (BMD) in young patients with 21-hydroxylase deficiency. We aimed to analyze the impact of treatment variables, phenotype and genotype on BMD and bone metabolism in these patients. DESIGN: Cross-sectional study. MEASUREMENTS: Twenty-eight Caucasian patients with classical 21-hydroxylase deficiency (5-39 years). Clinical parameters, hormonal status, osteocalcin (OC), C-terminal telopeptide of type I collagen (CTX), genotype and lumbar BMD (Z-scores) were assessed...
October 2009: Clinical Endocrinology
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