Results 81 to 90 of about 5,966 (238)
Prenatal Diagnosis, Volume 45, Issue 2, Page 163-170, February 2025.ABSTRACT Objective Advancements in non‐invasive prenatal screening (NIPS) could significantly alter prenatal screening by expanding the range of genetic conditions screened. This study aims to explore the perspectives of healthcare professionals (HCP) on the expanded use of NIPS and explore specifications for the inclusion of genetic conditions ...
Tierry M. Laforce +3 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
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract Newborn screening (NBS) is one of the most effective measures of secondary prevention. While the benefit of NBS on the clinical long‐term outcomes of children with inherited metabolic diseases (IMD) has been demonstrated, the potential burden of families living with an early diagnosed and treated child with an IMD has not been thoroughly ...
Elena Schnabel‐Besson +15 more
wiley +1 more source
Treatment of maple syrup urine disease with high flow hemodialysis in a neonate
The Turkish Journal of Pediatrics, 2019 Continious renal replacement therapy (CRRT) is a well recognizied treatment of choice in acute renal failure, however CRRT became a preferred treatment of metabolic emergencies with high leucine and ammonia levels like Maple syrup urine disease (MSUD ...
Fatih Aygün +4 more
doaj +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract This study describes the neurodevelopmental outcome of children with urea cycle disorders (UCD) and organic acidemias (OA) preliver transplant (LT), 1‐year, and 3‐years post‐LT. We performed a retrospective chart review of children with OA or UCD transplanted between January 2014 and December 2021.
Catherine Patterson +10 more
wiley +1 more source
Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact
Journal of Biochemical and Clinical Genetics, 2019 Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria.
Zuhair Rahbeeni +2 more
doaj +1 more source
Neuroradiological findings in maple syrup urine disease
Journal of Pediatric Neurosciences, 2013 Maple syrup urine disease is a rare inborn error of amino acid metabolism involving catabolic pathway of the branched-chain amino acids. This disease, if left untreated, may cause damage to the brain and may even cause death. These patients typically present with distinctive maple syrup odour of sweat and urine. Patients typically present with skin and
Venkatraman Indiran +1 more
openaire +4 more sources
Clinical Transplantation, 2019 Domino liver transplantation (DLT) using liver allografts from patients with metabolic disorders enhances organ utilization. Short‐ and long‐term course and outcome of these patients can impact the decision to offer this procedure to patients, especially
N. Çelik +12 more
semanticscholar +1 more source