Rym Dabboubi
Overview
Explore the profile of Rym Dabboubi including associated specialties, affiliations and a list of published articles.
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Articles
16
Citations
21
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Recent Articles
1.
Tombari S, Amri Y, Hasni Y, Hadj Fredj S, Salem Y, Ferchichi S, et al.
Heliyon
. 2024 Aug;
10(14):e34947.
PMID: 39149044
Introduction: Growth Hormone Deficiency (GHD) is a rare disease marked by a complete or partial reduction in the production of growth hormone. Vitamin D deficiency is frequent and may be...
2.
Amri Y, Dabboubi R, Khemiri M, Jebabli E, Hadj Fredj S, Ben Ahmed S, et al.
Mol Genet Genomics
. 2024 Jun;
299(1):64.
PMID: 38909345
Familial Hypophosphatasia presents a complex diagnostic challenge due to its wide-ranging clinical manifestations and genetic heterogeneity. This study aims to elucidate the molecular underpinnings of familial Hypophosphatasia within a Tunisian...
3.
Sahli A, Ouali F, Dabboubi R, Hadj Fredj S, Meddeb N, Mzoughi N, et al.
Afr Health Sci
. 2024 Feb;
23(3):213-222.
PMID: 38357153
Introduction: Sickle cell syndrome (SCS) represent a real health problem. In this work, we propose to study the epidemiological and clinical features of 66 patients with SCS. Methods: This is...
4.
Amri Y, Aboulkacem S, Dabboubi R, Ayoub M, Lamine O, Othmani M, et al.
Ann Biol Clin (Paris)
. 2023 May;
81(2):204-209.
PMID: 37184254
Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory...
5.
Nefzi M, Hadj Fredj S, Dabboubi R, Hamouda S, Tebib N, Boussetta K, et al.
Ann Biol Clin (Paris)
. 2021 Feb;
79(1):63-68.
PMID: 33589413
Background & Objectives: Cystic fibrosis (CF) is caused by mutations in the gene encoding the CF transmembrane regulator (CFTR) protein, a chloride channel located in the epithelial cell membrane. Over...
6.
Nefzi M, Wahabi I, Hadj Fredj S, Othmani R, Dabboubi R, Boussetta K, et al.
J Asthma
. 2020 Sep;
59(1):1-11.
PMID: 32962475
Objectives: This study aims to describe the molecular variability in the gene in a childhood chronic respiratory disease, asthma, in the Tunisian population and to identify the implications based on...
7.
Dabboubi R, Amri Y, Hamdi S, Jouini H, Sahli C, Hadj Fredj S, et al.
Ann Biol Clin (Paris)
. 2020 Jun;
78(4):411-416.
PMID: 32576539
Background And Objectives: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy worldwide associated with hemolysis as well as neonatal jaundice, kernicterus, and even death. The goal of this...
8.
Amri Y, Dabboubi R, Mghaieth F, Zili M, Messaoud T, Casini A, et al.
Haemophilia
. 2020 Mar;
26(4):e194-e197.
PMID: 32202028
No abstract available.
9.
Dabboubi R, Amri Y, Yahyaoui S, Mahjoub R, Sahli C, Sahli C, et al.
Eur J Med Genet
. 2020 Feb;
63(5):103874.
PMID: 32028041
Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced amount of transferrin. In this study, we describe the first case of congenital...
10.
Dabboubi R, Amri Y, Sahli C, Hadj Fredj S, Essaddam L, Zoghlami A, et al.
Clin Chem Lab Med
. 2019 Feb;
57(9):e226-e229.
PMID: 30763259
No abstract available.