Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders
Movement Disorders, Volume 40, Issue 9, Page 1851-1862, September 2025.Abstract Background The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. Objectives The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.
Katariina Granath +17 more
wiley +1 more source
Case report: maple syrup urine disease with a novel DBT gene mutation
BMC Pediatrics, 2019 Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex.
Wei Feng +3 more
doaj +1 more source
Reducing the effects of intracellular accumulation of thermolabile collagen II mutants by increasing their thermostability in cell culture conditions. [PDF]
, 2010 Mutations in collagen II are associated with spondyloepiphyseal dysplasia, a group of heritable diseases whose common features include aberrations of skeletal growth.
Fertala, Andrzej +3 more
core +2 more sources
Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease
Molecular Genetics and Metabolism Reports, 2015 Maple syrup urine disease is caused by a deficiency in the branched chain ketoacid dehydrogenase (BCKAD) complex. This results in the accumulation of branched chain amino acids (BCAA) and branched chain ketoacids in the body.
H.L. Chin +6 more
doaj +1 more source
iMeta, Volume 4, Issue 3, June 2025.A total of 2901 healthy Chinese children aged 0–12 years were enrolled in the reference group; 102 confirmed Phenylketonuria cases were included as validation individuals. Establishing the age‐specific reference intervals of 42 plasma amino acids in Chinese pediatric populations. Profiling dynamic interactions between multiple nutrient intake and amino
Yang Wen +8 more
wiley +1 more source
Report of Pedigree Pattern of a Family with Two Members Affected with Maple Syrup Urine Disease
پزشکی بالینی ابن سینا, 1999 Present paper reports two cases of affected newborns with maple syrup urine disease (MSUD) in an Iranian rural family, and also explains the genetic counseling procedure.
Hamid Pour Jafari
doaj
Molecular Genetics and Metabolism Reports, 2018 Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened.
Kimberly A. Chapman +3 more
doaj +1 more source
Evaluation of readability and accuracy of information leaflets in general practice for patients with asthma [PDF]
, 1998 No description ...
Brown, Richard +3 more
core +2 more sources
Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism
JIMD Reports, Volume 66, Issue 3, May 2025.ABSTRACT The current cornerstone of the management of many small‐molecule inborn errors of metabolism (IEMs) is a combination of dietary therapy and medication, with evidence for improved clinical outcomes. However, the burden imposed on patients and families is substantial.
A. Selvanathan +7 more
wiley +1 more source
A study to determine the value of group teaching to the individual diabetic as he perceives it [PDF]
, 1962 Thesis (M.S.)--Boston ...
Johns, Marjorie P.
core