Publications by authors named "Y Kriouile"
Article Synopsis
- Mitochondrial disorders (MDs) are challenging to diagnose due to their varying symptoms, but lactate stress tests (LSTA and LSTR) are effective screening tools.
- A meta-analysis was conducted on 14 studies, encompassing 1064 participants, to evaluate the accuracy of LSTA and LSTR for diagnosing MDs, assessing factors like sensitivity, specificity, and diagnostic odds ratios (DORs).
- Results indicated that while both tests showed moderate sensitivity and high specificity, LSTR had particularly better performance; the choice of test should consider the patient's fitness level and available resources.
Phenotype and molecular characterization of Wilson's disease in Morocco.
Clin Res Hepatol Gastroenterol
May 2024
Background And Study Aims: In Morocco the prevalence of Wilson disease (WD) and the spectrum of mutations are not known. The aim of the present study was to estimate the prevalence of WD in Morocco, to evaluate the phenotype among a large cohort of WD patients, and to characterize ATP7B variants in a subgroup of WD patients.
Patients And Methods: We collected data from 226 patients admitted to five university hospital centers in Morocco between 2008 and 2020.
Gaucher disease (GD) is a lysosomal storage disorder caused by glucocerebrosidase (GBA) deficiency. There are three subcategories of GD: Type 1 is characterized by the absence of primary central nervous system involvement; type 2 is an acute neuropathic disorder; and type 3 is chronic neuropathic. The correlation between genotype and phenotype is sometimes difficult to establish.
View Article and Find Full Text PDF