Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Abdul A. Peer-Zada"'
Publikováno v:
Journal of Infection and Public Health, Vol 17, Iss 6, Pp 1152- (2024)
Externí odkaz:
https://doaj.org/article/0a83a19e4605458f91864fded948879d
Autor:
Ragdah M. Alamri, Maryam Alanazi, Rajeh K. AlRajeh, Suha A. Tashkandi, Azizah F. Alswayyed, Manar A. Samman, Abdul Ali Peer‐Zada
Publikováno v:
Clinical Case Reports, Vol 12, Iss 5, Pp n/a-n/a (2024)
Key Clinical Message In a patient with de novo AML, co‐existing BCR::ABL1 p190 isoform and RUNX1::MECOM rearrangement is accompanied by a very poor prognosis including limited response to treatment and no molecular remission. It is essential to dev
Externí odkaz:
https://doaj.org/article/1967d03d5fd04e0da8dafa69ca3368a6
Autor:
Shahad Bawazeer, Mohammed Alshareet, Aljoharah Alakkas, Omar A Alsinaidi, Abdul Ali Peer-Zada
Publikováno v:
BMJ Neurology Open, Vol 6, Iss 1 (2024)
Background Dystonia is a genetic or non-genetic movement disorder with typical patterned and twisting movements due to abnormal muscle contractions that may be associated with tremor. Genetic and phenotypic heterogeneity leads to variable clinical pr
Externí odkaz:
https://doaj.org/article/2c386368125542bca1e6a15c7a47363d
Publikováno v:
Journal of Infection and Public Health, Vol 17, Iss 6, Pp 1152-1153 (2024)
Externí odkaz:
https://doaj.org/article/af4ed2e6eec34f84af945d47f2516ab7
Autor:
Mohammed A. Bafail, Rahaf AlTahan, Manar A. Samman, Suha A. Tashkandi, Ibraheem H. Motabi, Abdul Ali Peer‐Zada
Publikováno v:
Clinical Case Reports, Vol 11, Iss 7, Pp n/a-n/a (2023)
Key Clinical Message Complete molecular remission in a “variant APL” patient with short isoform of PML‐RARα and FLT3‐ITD mutation was achieved in response to ATRA and ATO plus IDA instead of standard treatment protocol. The use of FLT3 inhib
Externí odkaz:
https://doaj.org/article/3d850dd1ae6c43448c3ca23808964ac4
Autor:
Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 4, Iss 2, Pp 93-99 (2021)
Background: The endoplasmic reticulum membrane protein complex 1 (EMC1) gene encodes a subunit of the EMC with multiple alternatively spliced transcripts encoding different isoforms. Monoallelic and biallelic mutations of the EMC1 gene have been repo
Externí odkaz:
https://doaj.org/article/f9ca8474c87f4b7d87e897d5d69f7891
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 1, Pp 22-27 (2020)
Background: Harel-Yoon syndrome (HAYOS) is a recently described, rare neurodevelopmental disorder characterized by developmental delay, hypotonia, appendicular hypertonia, axonal neuropathy, and other variable features, such as spasticity and optic a
Externí odkaz:
https://doaj.org/article/88ceaddebe454e689cd1547bdf013e7c
Publikováno v:
Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract Herein, we report a case of VAIHS with atypical clinical presentation of perianal abscess, fistula fever, and bi‐cytopenia including pathogenic ADA2 mutation suggesting that ADA2 deficiency be considered as a differential diagnosis of enla
Externí odkaz:
https://doaj.org/article/2aaf7226a03f47919a6c46f6059e9c7d
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 2, Iss 1, Pp 40-53 (2019)
Glutaric aciduria type I (GA1) is an inherited metabolic disorder in which excessive levels of the amino acids lysine, hydroxylysine, and tryptophan accumulate in the body as a result of defective glutaryl-CoA dehydrogenase (GCDH) enzyme activity. Ex
Externí odkaz:
https://doaj.org/article/fd90b6d2fc744640a15ea12cb578c4d3
