Resultats de la cerca - Almannai, Mohammed

Nitric Oxide Deficiency in Mitochondrial Disorders: The Utility of Arginine and Citrulline per Almannai, Mohammed, El-Hattab, Ayman W.

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Arginine and citrulline for the treatment of MELAS syndrome per El-Hattab, Ayman W., Almannai, Mohammed, Scaglia, Fernando

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Carnitine Inborn Errors of Metabolism per Almannai, Mohammed, Alfadhel, Majid, El-Hattab, Ayman W.

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Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes per Almannai, Mohammed, Salah, Azza, El-Hattab, Ayman W.

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Arginine and Citrulline for the Treatment of MELAS Syndrome per El-Hattab, Ayman W., Almannai, Mohammed, Scaglia, Fernando

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Therapies for mitochondrial diseases and current clinical trials per El-Hattab, Ayman W., Zarante, Ana Maria, Almannai, Mohammed, Scaglia, Fernando

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Metabolic Seizures per Almannai, Mohammed, Al Mahmoud, Rabah A., Mekki, Mohammed, El-Hattab, Ayman W.

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Clinical trials in mitochondrial disorders, an update per Almannai, Mohammed, El-Hattab, Ayman W., Ali, May, Soler-Alfonso, Claudia, Scaglia, Fernando

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Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy per Almannai, Mohammed, Luo, Shiyu, Faqeih, Eissa, Al Mutairi, Fuad, Li, Qifei, Agrawal, Pankaj B.

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Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience per Alzaid, Mohammed, Al-Mobaireek, Khalid, Almannai, Mohammed, Mukhtar, Gawahir, Eltahir, Safa, Zafar, Adnan, Zada, Abdulali P., Alotaibi, Wadha

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Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature per Al-Otaibi, Ali, AlAyed, Alaa, Al Madhi, Asma, Saeed, Leena, Ng, Bobby G., Freeze, Hudson H., Almannai, Mohammed

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Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation per El-Hattab, Ayman W., Emrick, Lisa T, Hsu, Jean W., Chanprasert, Sirisak, Almannai, Mohammed, Craigen, William J., Jahoor, Farook, Scaglia, Fernando

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Milder Clinical and Biochemical Phenotypes Associated with the c.482G>A (p.Arg161Gln) Pathogenic Variant in Cobalamin C Disease: Implications for Management and Screening per Almannai, Mohammed, Marom, Ronit, Divin, Kristian, Scaglia, Fernando, Sutton, V. Reid, Craigen, William J., Lee, Brendan, Burrage, Lindsay C., Graham, Brett H.

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HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients per Alfadhel, Majid, Abadel, Basma, Almaghthawi, Hind, Umair, Muhammad, Rahbeeni, Zuhair, Faqeih, Eissa, Almannai, Mohammed, Alasmari, Ali, Saleh, Mohammed, Eyaid, Wafaa, Alfares, Ahmed, Al Mutairi, Fuad

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Corner Fracture Type Spondylometaphyseal Dysplasia: Overlap with Type II Collagenopathies per Machol, Keren, Jain, Mahim, Almannai, Mohammed, Orand, Thibault, Lu, James T., Tran, Alyssa, Chen, Yuqing, Schlesinger, Alan, Gibbs, Richard, Bonafe, Luisa, Xavier, Ana Belinda Campos, Unger, Sheila, Superti-Furga, Andrea, Lee, Brendan H., Campeau, Philippe M., Burrage, Lindsay C.

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Mutations in TP73 cause impaired mucociliary clearance and lissencephaly per Wallmeier, Julia, Bracht, Diana, Alsaif, Hessa S., Dougherty, Gerard W., Olbrich, Heike, Cindric, Sandra, Dzietko, Mark, Heyer, Christoph, Teig, Norbert, Thiels, Charlotte, Faqeih, Eissa, Al-Hashim, Aqeela, Khan, Sameena, Mogarri, Ibrahim, Almannai, Mohammed, Al Otaibi, Wadha, Alkuraya, Fowzan S., Koerner-Rettberg, Cordula, Omran, Heymut

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Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial per Alfadhel, Majid, Nashabat, Marwan, Saleh, Mohammed, Elamin, Mohammed, Alfares, Ahmed, Al Othaim, Ali, Umair, Muhammad, Ahmed, Hind, Ababneh, Faroug, Al Mutairi, Fuad, Eyaid, Wafaa, Alswaid, Abdulrahman, Alohali, Lina, Faqeih, Eissa, Almannai, Mohammed, Aljeraisy, Majed, Albdah, Bayan, Hussein, Mohamed A., Rahbeeni, Zuhair, Alasmari, Ali

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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy per Marafi, Dana, Mitani, Tadahiro, Isikay, Sedat, Hertecant, Jozef, Almannai, Mohammed, Manickam, Kandamurugu, Abou Jamra, Rami, El‐Hattab, Ayman W., Rajah, Jaishen, Fatih, Jawid M., Du, Haowei, Karaca, Ender, Bayram, Yavuz, Punetha, Jaya, Rosenfeld, Jill A., Jhangiani, Shalini N., Boerwinkle, Eric, Akdemir, Zeynep C., Erdin, Serkan, Hunter, Jill V., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Lupski, James R.

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Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy per del Caño-Ochoa, Francisco, Ng, Bobby G., Abedalthagafi, Malak, Almannai, Mohammed, Cohn, Ronald D., Costain, Gregory, Elpeleg, Orly, Houlden, Henry, Karimiani, Ehsan Ghayoor, Liu, Pengfei, Manzini, M. Chiara, Maroofian, Reza, Muriello, Michael, Al-Otaibi, Ali, Patel, Hema, Shimon, Edvardson, Sutton, V. Reid, Toosi, Mehran Beiraghi, Wolfe, Lynne A., Rosenfeld, Jill A., Freeze, Hudson H., Ramón-Maiques, Santiago

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

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