1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism [PDF]
Journal of Inherited Metabolic Disease, 1997 R. Wevers +7 more
semanticscholar +5 more sources
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening [PDF]
, 2021 Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass ...
Alonso, Laura +13 more
core +4 more sources
Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation [PDF]
, 2023 Glomerular filtration rate (GFR) is commonly used in clinical practice for the diagnosis and follow-up of chronic kidney disease. Screening for inborn errors of metabolism (IEM) is based on analysis of biomarkers in urine, reported by their ratio to ...
Bjerre, Anna Kristina +7 more
core +1 more source
Dihydroorotate dehydrogenase : new insights into an old target [PDF]
, 2020 Purine and pyrimidine nucleotides are important for both biosynthetic and regulatory pathways in cells. As constituents of the DNA and RNA molecules, the requirements for nucleotides in actively dividing cells are increased.
Popova, Gergana
core +1 more source
Newborn Urinary Metabolic Signatures of Prematurity and Other Disorders: A Case Control Study [PDF]
, 2001 This work assesses the urinary metabolite signature of prematurity in newborns by nuclear magnetic resonance (NMR) spectroscopy, while establishing the role of possible confounders and signature specificity, through comparison to other disorders.
Sílvia O. Diaz +13 more
core +3 more sources
Nephrolithiasis related to inborn metabolic diseases [PDF]
, 2009 Nephrolithiasis associated with inborn metabolic diseases is a very rare condition with some common characteristics: early onset of symptoms, family history, associated tubular impairment, bilateral, multiple and recurrent stones, and association with ...
A Pahari +42 more
core +2 more sources
Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder [PDF]
, 2015 Autism spectrum disorder (ASD) affects a significant number of individuals in the United States, with the prevalence continuing to grow. A significant proportion of individuals with ASD have comorbid medical conditions such as epilepsy.
Frye, Richard E.
core +1 more source
The diagnosis of inherited metabolic diseases by microarray gene expression profiling [PDF]
, 2010 Background Inherited metabolic diseases (IMDs) comprise a diverse group of generally progressive genetic metabolic disorders of variable clinical presentations and severity.
Arenas Hernandez, Monica +8 more
core +3 more sources
New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients [PDF]
, 2015 International audienceBackground: Lesch-Nyhan disease is a rare X-linked neurodevelopemental metabolic disorder caused by a wide variety of mutations in the HPRT1 gene leading to a deficiency of the purine recycling enzyme hypoxanthine-guanine ...
Brassier, Anaïs +8 more
core +2 more sources
Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]
, 2019 Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver +2 more
core +2 more sources