Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Amna Basheer M. Ahmed"'
Autor:
Badr M Alsaleem, Mohammed Hasosah, Amna Basheer M. Ahmed, Maher M Al Hatlani, Aziz Helal Alanazi, Abdulrahman Al-Hussaini, Ali T Asery, Khalid A Alghamdi, Muhanad M AlRuwaithi, Musa Ali M. Khormi, Ahmed Al Sarkhy, Ali S Alshamrani
Publikováno v:
The Saudi Journal of Gastroenterology, Vol 28, Iss 2, Pp 135-142 (2022)
Background: Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. Our knowledge of THES is limited du
Externí odkaz:
https://doaj.org/article/444be86e198a4a2cbf6898b365c1f89b
Autor:
Amna Basheer M. Ahmed, Musa Ahmad Fagih, Muhammed Salman Bashir, Abdulrahman Abdullah Al-Hussaini
Publikováno v:
BMC Gastroenterology, Vol 21, Iss 1, Pp 1-11 (2021)
Abstract Background Investigators from different parts of the world are calling for a re-evaluation of the role of liver biopsy (LB) in the evaluation of infantile cholestasis (IC), especially in the light of emerging non-invasive diagnostic technolo
Externí odkaz:
https://doaj.org/article/7e3a5dfaf0d449c5a8612f131b96dfeb
Publikováno v:
Case Reports in Gastroenterology, Vol 15, Iss 1, Pp 290-295 (2021)
Proprotein convertase (PC) deficiency is a rare autosomal recessive disorder caused by mutations in proprotein convertase subtilisin/kexin type 1 (PCSK1). It is characterized by severe malabsorptive early-onset diarrhea, obesity, and systemic endocri
Externí odkaz:
https://doaj.org/article/9719daa4fb9f4a06af06e673f5afb570
Publikováno v:
Case Reports in Gastroenterology, Vol 11, Iss 3, Pp 647-651 (2017)
Microvillus inclusion disease (MVID) is a rare autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea. We report a case of MVID variant with a homozygous gene mutation in syntaxin 3 (STX3). The patient is a male Sa
Externí odkaz:
https://doaj.org/article/1241873ad19d43bbaee01404551307a1
Publikováno v:
Case Reports in Pediatrics, Vol 2019 (2019)
The relationship of inflammatory bowel disease (IBD) and chronic recurrent multifocal osteomyelitis (CRMO) is understood as extraintestinal rheumatic manifestations. CRMO is a chronic, relapsing, inflammatory, noninfectious disorder of the skeletal s
Externí odkaz:
https://doaj.org/article/0a0dedf4323f44bba04fda0eb32f6677
Autor:
Ali S Alshamrani, Ahmed Al Sarkhy, Ali Asery, Aziz Alanazi, Mohammed Hasosah, Musa Khormi, Badr Alsaleem, Amna Basheer M. Ahmed, Maher M Al Hatlani, Khalid A Alghamdi, Abulrahman A Alhussaini, Muhanad Alruwaithi
Publikováno v:
Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association. 28(2)
Background Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. Our knowledge of THES is limited due
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edcbbdc02d80fa49c0cc95d91d153049
https://pubmed.ncbi.nlm.nih.gov/34414925
https://pubmed.ncbi.nlm.nih.gov/34414925
Publikováno v:
Case Reports in Gastroenterology, Vol 11, Iss 3, Pp 647-651 (2017)
Case Reports in Gastroenterology
Case Reports in Gastroenterology
Microvillus inclusion disease (MVID) is a rare autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea. We report a case of MVID variant with a homozygous gene mutation in syntaxin 3 (STX3). The patient is a male Sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1c94172ee2d6d70bbf897dbdeb70098
https://doi.org/10.1159/000479624
https://doi.org/10.1159/000479624
Autor:
Badr Alsaleem, Amna Basheer M. Ahmed
Publikováno v:
Case Reports in Pediatrics, Vol 2017 (2017)
Case Reports in Pediatrics
Case Reports in Pediatrics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0664cf88c9faed08972682dc1ebe1d4
https://doaj.org/article/8bfbc28812a7440492cb838f095462a3
https://doaj.org/article/8bfbc28812a7440492cb838f095462a3
Autor:
Amna Basheer M. Ahmed, Badr Alsaleem
Publikováno v:
Case Reports in Pediatrics, Vol 2017 (2017)
Case Reports in Pediatrics
Case Reports in Pediatrics
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b35629470b653bd0ba1fd6c7f4203adf
https://doaj.org/article/698131ee4d564aaea4d2c004720ce84e
https://doaj.org/article/698131ee4d564aaea4d2c004720ce84e