المؤلفون: Ina Kirchberg, Elke Lainka, Andrea Gangfuß, Alma Kuechler, Fabian Baertling, Lea D. Schlieben, Dominic Lenz, Eva Tschiedel

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: MEGDHEL syndrome, SERAC1, hyperammonemia, liver failure, neurometabolic disorder, lactic acidosis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1278047/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/7f48da23cd244ccda1488ac164242ba9

المؤلفون: Liene Thys, Marije Meuwissen, Katrien Janssens, Diane Beysen

المصدر: Heliyon, Vol 10, Iss 1, Pp e23746- (2024)

مصطلحات موضوعية: Neurometabolic disorder, Aromatic l-amino acid decarboxylase deficiency, AADC, Case report, Exome sequencing, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844023109546; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/df36465395864647ad5bdcf36cb4511a

المؤلفون: Karthik Muthusamy, Ajith Sivadasan, Luke Dixon, Sniya Sudhakar, Maya Thomas, Sumita Danda, Zbigniew K. Wszolek, Klaas Wierenga, Radhika Dhamija, Ralitza Gavrilova

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: adult-onset leukodystrophy, leukodystrophy, leukoencephalopathy, neurogenetics, neurometabolic disorder, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1219324/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/69fe0cc3850640e493d9a0edebafc3c1

المؤلفون: Alonso Zea Vera, Andrea L. Gropman

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: movement disorder, dystonia, neurometabolic disorder, deep brain stimulation, pallidotomy, thalamotomy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1205339/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/54d2b25c47704f96b4b1b0cd76363e82

المؤلفون: Jia-Tong Li, Ze-Xu Chen, Xiang-Jun Chen, Yong-Xiang Jiang

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Isolated sulfite oxidase deficiency, SUOX, ectopia lentis, Neurometabolic disorder, Genotype–phenotype correlation, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8090aba5f44c40309fd47351d5dd848a

المؤلفون: Li, Jia-Tong^{Aff1, Aff2}, Chen, Ze-Xu^{Aff3, Aff4, Aff5}, Chen, Xiang-Jun^{Aff1, Aff2, Aff6, IDs1302302202544x_cor3}, Jiang, Yong-Xiang^{Aff3, Aff4, Aff5, IDs1302302202544x_cor4}

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: Shamaita Majumdar, MD, Noriko Salamon, MD

المصدر: Radiology Case Reports, Vol 17, Iss 3, Pp 753-758 (2022)

مصطلحات موضوعية: Biotin-thiamine-responsive basal ganglia disease, Neurometabolic disorder, Seizure disorder, Basal ganglia, Thiamine transporter-2 gene, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043321008876; https://doaj.org/toc/1930-0433

URL الوصول: https://doaj.org/article/00b4f2b8b06f4d259218e74efb847a69

المؤلفون: Noshaba Noor, Hira Waseem

المصدر: Khyber Medical University Journal, Vol 14, Iss 1, Pp 71-3 (2022)

مصطلحات موضوعية: glutaric aciduria type i, multiple acyl coenzyme a dehydrogenase deficiency, new born screening, inborn error of metabolism, organic aciduria, organic academia, autosomal recessive, neurometabolic disorder, glutaric acidemia, Medicine

وصف الملف: electronic resource

Relation: https://www.kmuj.kmu.edu.pk/article/view/21984; https://doaj.org/toc/2305-2643; https://doaj.org/toc/2305-2651

URL الوصول: https://doaj.org/article/ec3a4d53283d42b18f4b309f76058a83

المؤلفون: Mohamed, Sarar^{Aff2, Aff3, Aff4}, Salih, Mustafa A. M.^Aff5

المساهمون: Salih, Mustafa A.M., editor^Aff1

المصدر: Clinical Child Neurology. :357-431

المؤلفون: Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-ahsunthornwattana, Supranee Thongpradit, Kanya Moolsuwan, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom Suktitipat, Natini Jinawath, Duangrurdee Wattanasirichaigoon

المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: GM2 gangliosidosis, Sandhoff disease, HEXB, Tay-Sachs disease, Developmental regression, Neurometabolic disorder, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/5793a6bb9459425ea999df2f70d8699e