Inborn errors of metabolism belong to heterogeneous group of disorders which cause a number of morbidities and mortality in pediatric population and come under the class of genetic rare diseases. With the advent of newer molecular tools and techniques, so for several hundreds of disorders have been defined after the first description by Garrod in the 20th century. Early and timely diagnosis of the disease may prevent the life of a patient, but there are many reasons persist, restricting the timely diagnosis of the disease.
Metabolic Disorders; Neonatal Disorders; Metabolic Errors
Challenges in developing therapeutic strategies for mild neonatal encephalopathy.
McDouall A, Wassink G, Bennet L, Gunn AJ, Davidson JO
Neural regeneration research. 2022; 17(2): 277-282
Neurorehabilitation using a voluntary driven exoskeletal robot improves trunk function in patients with chronic spinal cord injury: a single-arm study.
Okawara H, Tashiro S, Sawada T, Sugai K, Matsubayashi K, Kawakami M, Nori S, Tsuji O, Nagoshi N, Matsumoto M, Nakamura M
Neural regeneration research. 2022; 17(2): 427-432
Rapid GFAP and Iba1 expression changes in the female rat brain following spinal cord injury.
Mandwie M, Piper JA, Gorrie CA, Keay KA, Musumeci G, Al-Badri G, Castorina A
Neural regeneration research. 2022; 17(2): 378-385
History of the methodology of disease gene identification.
American journal of medical genetics. Part A. 2021; ():
Gripforce reduction in children with an upper neonatal brachial plexus lesions.
Buitenhuis SM, Pondaag W, Wolterbeek R, Malessy MJA
Journal of rehabilitation medicine. 2021; ():