Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Toufik Meskini"'
Autor:
Maryem Sahli, Abdelali Zrhidri, Youssef El Kadiri, Imane Cherkaoui Jaouad, Toufik Meskini, Abdelaziz Sefiani
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-7 (2023)
Abstract Background Wilson disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in various organs, principally in the liver and brain. The disease can be manifested with hepatic, neurologic and ophthalmic signs
Externí odkaz:
https://doaj.org/article/ad076d64fead4269a975fd3638019c6d
Publikováno v:
The Pan African Medical Journal, Vol 32, Iss 127 (2019)
La maladie de Weber-Christian ou panniculite idiopathique est une affection rare, caractérisée par une inflammation du tissu adipeux sous-cutané; il s'agit d'une entité pathologique non spécifique qui reste toujours un sujet de débat et dont l'
Externí odkaz:
https://doaj.org/article/55f3a28b3eda40b5bf1e2054b8a12bda
Publikováno v:
Asia Pacific Journal of Medical Toxicology, Vol 3, Iss 4, Pp 173-175 (2014)
Background: Closantel is a veterinary drug used as anthelmintic for ruminants while it is contraindicated for humans. This report describes a rare case of blindness, increased liver enzymes and coagulopathy following closantel poisoning. Case report:
Externí odkaz:
https://doaj.org/article/df37fb25bc1445bbb13b7bd3ead78f19
Publikováno v:
The Pan African Medical Journal, Vol 20, Iss 18 (2015)
Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease an
Externí odkaz:
https://doaj.org/article/2930500426f7452fa3a6cee0d0e4be8c
Autor:
Nezha Mouane, Imane Cherkaoui Dekkaki, Said Ettair, Toufik Meskini, Nabil Khalloufi, Aziz Bouklouze, Amina Barka
Publikováno v:
The Pan African Medical Journal, Vol 19, Iss 377 (2014)
INTRODUCTION: to determine the metabolic profile in a group of obese children in Morocco. METHODS: the BMI, the waist circumference, the blood pressure and metabolic parameters in 73 children (37 obese and 36 normal) were compared. RESULTS: 80% of ob
Externí odkaz:
https://doaj.org/article/e895dde6616a46a080430061b16868e0
Publikováno v:
The Pan African Medical Journal, Vol 17, Iss 63 (2014)
Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder due to osteoclast abnormal activity.We report a thirteen month-old male patient, diagnosed as MIOP while investigating the cause of hepatosplenomegaly associated with hydrocephalus.
Externí odkaz:
https://doaj.org/article/e303034d4a0c46a39a34f97eea447a5e
Publikováno v:
Scholars Journal of Applied Medical Sciences. :541-544
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3521495e6925031ba58012d3e962dd7b
https://doi.org/10.36347/sjams.2020.v08i02.036
https://doi.org/10.36347/sjams.2020.v08i02.036
Autor:
Ilse Broekaert, Andrea Lo Vecchio, Lori R. Holtz, Rodrigo Vazquez-Frias, Juliet Aguilar, Andrea Smarrazzo, Bhupinder Sandhu, Sean R. Moore, Suporn Treepongkaruna, James A. Berkley, Alfredo Guarino, Juan Francisco Rivera Medina, Hania Szajewska, Toufik Meskini
Publikováno v:
J Pediatr Gastroenterol Nutr
The incidence of gastroenteritis has greatly reduced due to improved hygiene conditions in developing countries and the use of rotavirus vaccine. Still thousands of children, however, die from gastroenteritis, most of them in poor countries. Yet gast
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a67d5ceaf7bf1d32d37150ffab8650f
https://hdl.handle.net/20.500.12866/8300
https://hdl.handle.net/20.500.12866/8300
Autor:
Abdelaziz Sefiani, H. Merhni, Nezha Mouane, H. Berrani, M. Zerkaoui, Toufik Meskini, Said Ettair
Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-4 (2018)
BMC Pediatrics
BMC Pediatrics
Background Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aacc156702ad5dabac8f84cd465dffb5
http://link.springer.com/article/10.1186/s12887-018-1161-4
http://link.springer.com/article/10.1186/s12887-018-1161-4
Publikováno v:
International Journal of Medical Research and Health Sciences, Vol 6, Iss 10, Pp 167-172 (2017)
Primary hyperoxaluria type 1 (PH1) is a metabolic disorder that mainly affects the kidneys. It results from build-up of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::778a32db8b9708a47fc331134b472210
http://www.ijmrhs.com/medical-research/primary-hyperoxaluria-case-reports-and-review-of-literature.pdf
http://www.ijmrhs.com/medical-research/primary-hyperoxaluria-case-reports-and-review-of-literature.pdf