Results 201 to 210 of about 36,711 (394)
This systematic review found that while the Gross Motor Function Measure (GMFM) is widely used across 208 studies involving various pediatric conditions beyond cerebral palsy, validation studies exist for only eight conditions with generally low‐quality evidence.
Hirokazu Abe+2 more
wiley +1 more source
Excretion of organic acids associated with biotin deficiency in chronic anticonvulsant therapy [PDF]
Berlit, Peter+3 more
core
Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism [PDF]
Johannes Zschocke+6 more
openalex +1 more source
Abstract Aims To investigate whether plasma glucose decline rates influence cardiac repolarisation, transmural dispersion and counterregulatory hormones in individuals with type 1 diabetes (T1D) with and without good glycaemic control. Materials and Methods In a randomised crossover study, 20 young men with T1D (10 well‐regulated (HbA1c ≤53 mmol/mol ...
Per G. Hagelqvist+8 more
wiley +1 more source
Diagnosis and Genetic Analysis of Glutaric Acidaemia Type I: Very rarely seen inborn error of metabolism. [PDF]
Vasikarla M+4 more
europepmc +1 more source
Low‐sodium females took significantly longer to start mating than high‐sodium females, but no pairings differed in the duration of copulation. Reproductive outputs, measured by number of clutches, hatching young, adult offspring and pupation time, did not differ across parental sodium pairings.
Maggie C. Vincent+3 more
wiley +1 more source
A rare inborn error of metabolism associated with a Dandy-Walker malformation. [PDF]
Manel L+4 more
europepmc +1 more source