Search Results - Majid Alfadhel

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  1. 1
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    Enzyme replacement therapy for Fabry disease: some answers but more questions by Majid Alfadhel, Sandra Sirrs

    Published 2011
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  2. 2
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    First successful outcomes of pegvaliase (PALYNZIQ) in children by Majid Alfadhel, Rayyan Albarakati

    Published 2024
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  3. 3
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    Spinal Cord Involvement in Pediatric-Onset Metabolic Disorders With Mendelian and Mitochondrial Inheritance by Brahim Tabarki, Wejdan Hakami, Nader Alkhuraish, Kalthoum Tlili-Graies, Majid Alfadhel, Majid Alfadhel

    Published 2021
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  4. 4
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    A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia by Kheloud M. Alhamoudi, Javaid Bhat, Marwan Nashabat, Masheal Alharbi, Yusra Alyafee, Abdulaziz Asiri, Muhammad Umair, Majid Alfadhel, Majid Alfadhel

    Published 2020
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  5. 5
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    Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study by Malak Alghamdi, Khalid A. Alhasan, Areej Taha Elawad, Suha Salim, Marwa Abdelhakim, Marwan Nashabat, Rupesh Raina, Jameela Kari, Majid Alfadhel, Majid Alfadhel

    Published 2020
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  6. 6
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    Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D) by Muhammad Umair, Muhammad Umair, Amjad Khan, Amjad Khan, Amir Hayat, Safdar Abbas, Abdulaziz Asiri, Abdulaziz Asiri, Muhammad Younus, Wajid Amin, Shoaib Nawaz, Shazia Khan, Erum Malik, Majid Alfadhel, Majid Alfadhel, Farooq Ahmad

    Published 2019
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  7. 7
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    Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10 by Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel, Xue Zhang

    Published 2019
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  8. 8
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    Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized control... by Marwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, Mohammed Saleh, Mohammed Elamin, Hind Ahmed, Faroug Ababneh, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Majed Aljeraisy, Mohamed A. Hussein, Ali Alasmari, Majid Alfadhel

    Published 2019
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  9. 9
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    The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data by Majid Alfadhel, Majid Alfadhel, Majid Alfadhel, Mohammed Almuqbil, Mohammed Almuqbil, Fuad Al Mutairi, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Waleed Altuwaijri, Ahmed Al-Rumayyan, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Naif A. M. Almontashiri, Amal Alhashem, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Muhammad Talal Alrifai, Ahmed Alfares, Ahmed Alfares, Brahim Tabarki

    Published 2021
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  10. 10
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    What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations by Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi, Ahmed Alahmad, Mamoon Rashid, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Faroug Ababneh, Mohammed Albalwi, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer, Marwa Abdelhakim, Senay Kafkas, Katsuhiko Mineta, Nicole Cheung, Abdallah Abdallah, Stine Büchmann-Møller, Yoshinori Fukasawa, Xiang Zhao, Issaac Rajan, Robert Hoehndorf, Fuad Al Mutairi, Takashi Gojobori, Majid Alfadhel

    Published 2020
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