Results 61 to 70 of about 3,985 (198)
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
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
An overview of current prenatal genetic screening and diagnosis guidelines
Pregnancy, Volume 1, Issue 3, May 2025.Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli +3 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
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
4,5‐Dimethyl‐3‐hydroxy‐2[5H]‐furanone (sotolone) — The odour of maple syrup urine disease [PDF]
, 1999 Frank Podebrad +5 more
openalex +1 more source
Stem Cell Research, 2019 The human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG
Haiyan Zhang +8 more
doaj +1 more source
Case report: Aqueous and Vitreous amino-acid concentrations in a patient with maple syrup urine disease operated on rhegmatogenous retinal detachment [PDF]
, 2016 Menelaos Kanakis +4 more
openalex +1 more source