日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia

病例报告：沙特阿拉伯一例罕见的、可治疗的代谢综合征（布朗-维亚莱托-范莱尔综合征），其临床表现酷似慢性炎症性脱髓鞘性多发性神经病

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2024.1377515
Kentab, Amal Y; Alsalloum, Yara; Labani, Mai; Hudairi, Abrar; Hamad, Muddathir H; Jamjoom, Dima Z; Alwadei, Ali H; Alhammad, Reem M; Bashiri, Fahad A
炎症
炎症/感染
神经科学
代谢
代谢综合征
发表日期：2024
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Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene

病例报告：一例晚期孤立性脑膜脑脊髓炎病例揭示了CIITA基因中的一种新型致病变异

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2023.1269396
Alosaimi, Mohammed F; Hamad, Muddathir H; AlShammari, Muneera J; Jamjoom, Dima Z; Musibeeh, Najd S
神经科学
CIITA
发表日期：2023
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Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome

Galloway-Mowat综合征四名患者中新型O-唾液酸糖蛋白内肽酶变体的基因组、蛋白质组和表型谱

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2022.806190
Ali Alghamdi, Malak; Benabdelkamel, Hicham; Masood, Afshan; Saheb Sharif-Askari, Narjes; Hachim, Mahmood Y; Alsheikh, Hamad; Hamad, Muddathir H; Salih, Mustafa A; Bashiri, Fahad A; Alhasan, Khalid; Kashour, Tarek; Guatibonza Moreno, Pilar; Schröder, Sabine; Karageorgou, Vasiliki; Bertoli-Avella, Aida M; Alkhalidi, Hisham; Jamjoom, Dima Z; Alorainy, Ibrahim A; Alfadda, Assim A; Halwani, Rabih
发表日期：2022
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Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital

伴有肌张力障碍2型的高锰血症：一种潜在可治疗的神经退行性疾病：一家三级大学医院的病例系列研究

期刊:Children-Basel
影响因子:2.1
doi:10.3390/children9091335
Alhasan, Khalid A; Alshuaibi, Walaa; Hamad, Muddathir H; Salim, Suha; Jamjoom, Dima Z; Alhashim, Aqeela H; AlGhamdi, Malak Ali; Kentab, Amal Y; Bashiri, Fahad A
神经科学
发表日期：2022
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Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency

吡哆胺-5'-磷酸氧化酶缺乏症的表型和分子谱：87例吡哆胺-5'-磷酸氧化酶缺乏症病例的范围综述

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.13843
Alghamdi, Malak; Bashiri, Fahad A; Abdelhakim, Marwa; Adly, Nouran; Jamjoom, Dima Z; Sumaily, Khalid M; Alghanem, Bandar; Arold, Stefan T
发表日期：2021
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Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

琥珀酸半醛脱氢酶缺乏症伴中枢性甲状腺功能减退

期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.3504
Alghamdi, Malak Ali; Alkhamis, Waleed H; Jamjoom, Dima Z; Al Khalifah, Reem; Alshammari, Nawaf Rahi; Alsumaili, Khalid; Arold, Stefan T
甲状腺功能减退
免疫/内分泌
发表日期：2021
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