المؤلفون: Mohammed B. Dhalla, S. M. Hussain Qadri, Pinar T. Ozand, Sarvepalli B. Subramanyam

المصدر: The Indian Journal of Pediatrics. 57:717-721

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Saudi Arabia, Urine, High-performance liquid chromatography, Automated data, chemistry.chemical_compound, Maple Syrup Urine Disease, medicine, Humans, Derivatization, chemistry.chemical_classification, High rate, Chromatography, Plasma samples, business.industry, Maple syrup urine disease, Infant, Newborn, Infant, medicine.disease, Amino acid, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5641349fb5238427bc7db15ec0e5ea6
https://doi.org/10.1007/bf02728722

المؤلفون: Mohammed B. Dhalla, Pinar Ozand, Generoso G. Gascon

المصدر: American journal of medical genetics. 35(2)

مصطلحات موضوعية: Male, medicine.diagnostic_test, business.industry, Brain Diseases, Metabolic, Brain biopsy, Leukodystrophy, Saudi Arabia, Physiology, Consanguinity, medicine.disease, Blindness, Canavan disease, Aspartoacylase, Amidohydrolases, Degenerative disease, Medicine, Dementia, Humans, Female, Aspartoacylase activity, business, Genetics (clinical), Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b03bb3d85a568d93c169752a832ac8ad
https://pubmed.ncbi.nlm.nih.gov/2309767