Results 131 to 140 of about 167,513,957 (289)
Journal of Pediatric Gastroenterology and Nutrition, EarlyView.Abstract Objectives Regular monitoring of urinary electrolyte excretion and kidney function is essential in children with intestinal failure (IF) receiving long‐term parenteral nutrition (PN). This study evaluated alternative urine sampling methods against 24‐h urine collection (UC) and assessed the prevalence of chronic kidney disease (CKD) and renal ...
Anna Sakaeva +12 more
wiley +1 more source
Progress toward improved therapies for inborn errors of metabolism
, 2015 Because of their prevalence, severity and lack of effective treatments, inborn errors of metabolism need novel and more effective therapeutic approaches.
GINOCCHIO, virginia maria +1 more
core +1 more source
JPGN Reports, EarlyView.Abstract Hereditary fructose intolerance (HFI) typically presents in infancy with acute metabolic crisis upon the introduction of fructose. We report a case of a 13‐year‐old female with chronic abdominal pain, short stature, and persistent mild transaminitis.
Alexandra Hurlock +4 more
wiley +1 more source
Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?
Orphanet Journal of Rare DiseasesBackground Isobutyryl-coenzyme A dehydrogenase deficiency (IBDD) is a rare inborn error of valine metabolism caused by variants in the ACAD8 gene. Since its initial description in 1998, a wide range of clinical features has been reported, but the disease
María Daniela Santacruz Reyes +1 more
doaj +1 more source
JEADV Clinical Practice, EarlyView.ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni +3 more
wiley +1 more source
, 2001 Inborn errors of metabolism (IEM) are a group of disorders that causes abnormal function of biochemical pathways. Archibald Garrod des-cribed the first inborn error of metabolism in 1893. He described alkaptonuria in a patient whose urine turned black on
Tuan Norhafizah binti Tuan Zakaria
core
Paediatric Melanonychia: Diagnosis and Management
JEADV Clinical Practice, EarlyView.ABSTRACT Longitudinal melanonychia (LM) in children presents unique diagnostic and management challenges that cannot be adequately addressed by applying adult‐based criteria. Unlike in adults, there are no validated clinical, dermoscopic or histopathologic criteria for predicting nail unit melanoma in the paediatric population.
Angela J. Jiang +5 more
wiley +1 more source
Liver transplantation for inborn errors of liver metabolism.
, 2006 Liver transplantation brings complete recovery from end-stage liver disease, and full correction of liver based inborn errors of ...
Efienne M. Sokal, Sokal, Etienne
core +1 more source
Mass Spectrometry Reviews, EarlyView.ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source