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1دورية أكاديمية
المؤلفون: Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, Mohammed Elamin, Ahmed Alfares, Ali Al Othaim, Muhammad Umair, Hind Ahmed, Faroug Ababneh, Fuad Al Mutairi, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Mohammed Almannai, Majed Aljeraisy, Bayan Albdah, Mohamed A. Hussein, Zuhair Rahbeeni, Ali Alasmari
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
مصطلحات موضوعية: Carglumic acid, Hyperammonemia, Methylmalonic academia, Organic academia, Propionic acidemia, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Abdul Rafiq Khan, Ali Al-Othaim, Ahmed Al-Fares, Najla Al Hussain
المصدر: Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 26-30 (2018)
مصطلحات موضوعية: msud hplc analysis, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Maher Almashary, Minnie Jacob, Mohamed S. Rashed, Mohamad Saeedi, Majid Alfadhel, Zuhair Rahbeeni, Saif Al Saif, Fahd El-Badaoui, Hamad Al-Zaidan, Ayman Alsulaiman, Abeer Migdad, Lujane Y. Al-Ahaidib, Moeenaldeen Al-Sayed, Sulaiman Almohameed, Fuad Al Mutairi, Amal A. A. Saadallah, Mohamed Al-Amoudi, Mohammed Al-Owain, Mansour Alwakeel, Osama Y. Al-Dirbashi, Wafaa Eyaid, Ali Alasmari, Ali Al Othaim, Mohammed Alzahrani, Saeed Aljohery, Ali Al-Odaib, Eissa Faqeih, Zuhair N. Al-Hassnan
المصدر: Journal of Paediatrics and Child Health. 53:585-591
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Newborn screening, business.industry, Incidence (epidemiology), Retrospective cohort study, medicine.disease, Congenital hypothyroidism, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, medicine, Congenital adrenal hyperplasia, business, Propionic acidaemia, 030217 neurology & neurosurgery
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4
المؤلفون: Majid, Alfadhel, Ali, Al Othaim, Saif, Al Saif, Fuad, Al Mutairi, Moeenaldeen, Alsayed, Zuhair, Rahbeeni, Hamad, Alzaidan, Mohammed, Alowain, Zuhair, Al-Hassnan, Mohamad, Saeedi, Saeed, Aljohery, Ali, Alasmari, Eissa, Faqeih, Mansour, Alwakeel, Maher, AlMashary, Sulaiman, Almohameed, Mohammed, Alzahrani, Abeer, Migdad, Osama Y, Al-Dirbashi, Mohamed, Rashed, Mohamed, Alamoudi, Minnie, Jacob, Lujane, Alahaidib, Fahd, El-Badaoui, Amal, Saadallah, Ayman, Alsulaiman, Wafaa, Eyaid, Ali, Al-Odaib
المصدر: Journal of paediatrics and child health. 53(6)
مصطلحات موضوعية: Male, Databases, Factual, Incidence, Infant, Newborn, Saudi Arabia, Endocrine System Diseases, Risk Assessment, Severity of Illness Index, Infant, Newborn, Diseases, Neonatal Screening, Humans, Female, Developing Countries, Metabolism, Inborn Errors, Program Evaluation, Retrospective Studies
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5
المؤلفون: Abdul Rafiq Khan, Shazia Mrtaza, Waleed Tamimi, Sara I Altraif, Khalid Muhammed Khan, Ibrahim Altraif, Ali Al-Othaim, Waqas Jamil
المصدر: Modern Chemistry & Applications. 4
مصطلحات موضوعية: Detection limit, chemistry.chemical_compound, Reproducibility, Chromatography, chemistry, medicine.diagnostic_test, Formic acid, Therapeutic drug monitoring, Extraction (chemistry), medicine, Solid phase extraction, Ammonium acetate, High-performance liquid chromatography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6bba09655a21a88ffc984c1cdaf23959
https://doi.org/10.4172/2329-6798.1000187 -
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المؤلفون: Abdulrhman A. Alqahtani, Hussam Assiri, Hesham Alshaalan, Shatha Al Rasheed, Daniel Trujillano, Arndt Rolfs, Majid Alfadhel, Wafaa Eyaid, Muhammad Talal Alrifai, Ali Al Othaim, Manal Alaamery
المصدر: JIMD Reports ISBN: 9783662474525
مصطلحات موضوعية: medicine.medical_specialty, Delayed myelination, business.industry, ASPARAGINE SYNTHETASE DEFICIENCY, macromolecular substances, Metabolism, medicine.disease, Bioinformatics, Article, Endocrinology, Atrophy, nervous system, Internal medicine, medicine, Global developmental delay, Asparagine, Spastic quadriplegia, business, Intractable seizures
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42e7366487fcf18c2525959405b275f0
https://doi.org/10.1007/8904_2014_405 -
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المؤلفون: Mohammed Benmeakel, Majid Alfadhel, Abdullah Alzaben, Ali Al Othaim, Mohammad Arif Hossain, Fuad Al Mutairi, Mohammed Al Balwi, Wafaa Eyaid, Ahmed Alfares
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, education, Saudi Arabia, Inborn errors of metabolism, Sphingolipidoses, 03 medical and health sciences, 0302 clinical medicine, Health care, Fatty acid oxidation defects, medicine, Humans, Sphingolipidosis, Genetics(clinical), Pharmacology (medical), Genetics (clinical), Retrospective Studies, IEMs, High rate, Medicine(all), Retrospective review, business.industry, Incidence (epidemiology), Incidence, Research, Retrospective cohort study, General Medicine, Pediatric department, Mitochondrial, Lysosomal Storage Diseases, 030104 developmental biology, Mutation, Female, Lysosomal, Organic acidemia, business, Carrier screening, 030217 neurology & neurosurgery, Metabolism, Inborn Errors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b42d7901f6c50765885e654ae788fd1