Results 61 to 70 of about 57,504 (328)
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe +19 more
wiley +1 more source
Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA
Scientific ReportsLysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López +2 more
doaj +1 more source
Human Mutation, 2018 The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases.
Diane B. Zastrow +22 more
semanticscholar +1 more source
Targeted next generation sequencing in patients with inborn errors of metabolism [PDF]
, 2018 BACKGROUND: Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster.
Armstrong i Morón, Judith +9 more
core +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism.
Annals of Translational Medicine, 2018 Timely newborn screening and genetic profiling are crucial in early recognition and treatment of inborn errors of metabolism (IEMs). A proposed nosology of IEMs has inserted 1,015 well-characterized IEMs causing alterations in specific metabolic pathways.
M. Mussap, M. Zaffanello, V. Fanos
semanticscholar +1 more source
, 2016 Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
openaire +4 more sources
LABRAD : Vol 39, Issue 2 - December 2013 [PDF]
, 2013 Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core +1 more source
Cerebrospinal Fluid Metabolome in Central Nervous System Infections: A Study of Diagnostic Accuracy
Annals of Neurology, EarlyView.Objective To assess the diagnostic accuracy of metabolites in cerebrospinal fluid (CSF) for central nervous system (CNS) infections. Methods Patients were derived from three prospective cohort studies in the Netherlands. All studies included adults suspected of a CNS infection who underwent a diagnostic lumbar puncture.
Steven L. Staal +7 more
wiley +1 more source
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Case Reports in Pediatrics, 2018 Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati +4 more
doaj +1 more source