Results 61 to 70 of about 9,849 (231)
Not So Rare: Errors of Metabolism during the Neonatal Period
, 2003 During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
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Analytical Science Advances, Volume 6, Issue 2, December 2025.ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu +3 more
wiley +1 more source
Journal of Rawalpindi Medical College, 2018 Consanguineous marriage is deeply embedded in the fabric of South-East Asian society. Maple Syrup Urine Disease (MSUD) and congential adrenal hyperplasia (CAH) are autosomal recessive diseases, with an increased risk of transmission amongst progeny of ...
Hafiz Armaghan Saeed et al.,
doaj
Molecular basis of various forms of maple syrup urine disease in Chilean patients
Molecular Genetics & Genomic Medicine, 2021 Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex.
Diana Ruffato Resende Campanholi +12 more
doaj +1 more source
Anästhesie und Ahornsirupkrankheit: Fallbericht und perioperatives anästhesiologisches Management [PDF]
, 2018 Zusammenfassung: Die Ahornsirupkrankheit ist eine seltene autosomal-rezessive Stoffwechselerkrankung, der eine Störung der Decarboxylierung von verzweigtkettigen Aminosäuren zugrunde liegt.
Haberstich, P. +2 more
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Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]
, 1992 __Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim) +1 more
core +2 more sources
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Classic isovaleric aciduria (cIVA) is a rare inherited metabolic disorder characterized by recurrent life‐threatening metabolic decompensations and neurocognitive impairment in untreated patients. This meta‐analysis aims to assess the impact of early diagnosis by newborn screening (NBS) on mortality and neurocognitive outcome.
Anna T. Reischl‐Hajiabadi +8 more
wiley +1 more source
CRRT: trattamento della crisi metabolica grave nella maple syrup urine disease
Giornale di Clinica Nefrologia e Dialisi, 2018 non ...
Pasquale Fatuzzo +4 more
doaj +1 more source
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]
, 2016 BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben +8 more
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Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista +3 more
wiley +1 more source