Results 1 to 10 of about 19,861 (153)

Editorial: Nutritional management of patients with inborn errors of metabolism [PDF]

Frontiers in Nutrition
Consuelo Pedrón-Giner, Luis Aldamiz-Echevarria, María L. Couce, María L. Couce   +3 more
doaj   +4 more sources

Network-based association analysis to infer new disease-gene relationships using large-scale protein interactions. [PDF]

PLoS ONE, 2018
Protein-protein interactions integrated with disease-gene associations represent important information for revealing protein functions under disease conditions to improve the prevention, diagnosis, and treatment of complex diseases.
Apichat Suratanee, Kitiporn Plaimas
doaj   +3 more sources

Diagnosing Inborn Errors of Lipid Metabolism with Proton Nuclear Magnetic Resonance Spectroscopy [PDF]

Clinical Chemistry, 2006
AbstractBackground: Many severe diseases are caused by defects in lipid metabolism. As a result, patients often accumulate unusual lipids in their blood and tissues, and proper identification of these lipids is essential for correct diagnosis. In this study, we investigated the potential use of proton nuclear magnetic resonance (1H-NMR) spectroscopy to
Oostendorp, M. van, Engelke, U.F.H., Willemsen, M.A.A.P., Wevers, R.A.   +3 more
openaire   +4 more sources

Integrative bioinformatics analysis identifies APOE as a candidate link between lipid dysregulation and macrophage activation in inborn errors of metabolism

Frontiers in Pharmacology
BackgroundInborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders characterized by metabolic dysregulation and high mortality. Despite extensive genetic discoveries, the molecular mechanisms underlying severe disease progression ...
Rahmat Dani Satria, Riswan Hadi Kusuma, Riswan Hadi Kusuma, Nazhipah Isnani, Usi Sukorini, Usi Sukorini, Tri Ratnaningsih, Tri Ratnaningsih, Elizabeth Henny Herningtyas, Elizabeth Henny Herningtyas, Umi S. Intansari, Umi S. Intansari, Windarwati, Windarwati, Nur Imma Fatimah Harahap, Nur Imma Fatimah Harahap, Primadhy Harris Syaifullah, Primadhy Harris Syaifullah, Kharisa Rasikhatul Hikmatul, Litia Lucretia Bodiwan, Richardus Wisnandito Prabasaktya, Nicholas Matthew Santoso, Muhammad Arkaan Putra Aprilia Darmawan, Eko Mugiyanto, Bambang Ardianto, Lalu Muhammad Irham, Chiou-Feng Lin, Chiou-Feng Lin, Chia-Ling Chen, Chia-Ling Chen, Chia-Ling Chen, Chia-Ling Chen, Wirawan Adikusuma   +32 more
doaj   +2 more sources

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives [PDF]

Frontiers in Nutrition
Cobalamin (vitamin B12) is a vitamin with a defined role in human metabolism. Since its discovery in the 20th century, our understanding of its deficiency that results in multifaceted disorders with a significant impact on neurological health has evolved.
Arushi Gahlot Saini, Pradeep Kumar Gunasekaran, Asuri Narayan Prasad   +2 more
doaj   +2 more sources

Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism [PDF]

Archives of Ophthalmology, 1976
Inborn errors of metabolism comprise the mucolipidoses and abnormalities in the metabolism of carbohydrates and of lipids. A large number have ocular manifestations, some of which are essential to the specific diagnoses. The carbohydrate syndromes include galactosemia, with its characteristic cataracts; glycogen storage, with surprisingly few ocular ...
D. Cogan
semanticscholar   +3 more sources

Metabolic advances in 2025: from clinical breakthroughs to molecular reprogramming [PDF]

Metabolism Open
The year 2025 represented a turning point in metabolic research, marked by advances that combined unprecedented clinical efficacy with deep mechanistic insight. Landmark obesity trials redefined therapeutic expectations, with head-to-head and combination
Maria Dalamaga, Junli Liu
doaj   +2 more sources

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes—A Systematic Review [PDF]

Metabolites
Background: Myoclonus, a sudden brief shock-like involuntary movement, represents a common yet under-recognized manifestation across many inherited metabolic disorders.
Elżbieta Majewska, Zofia Zdort, Aleksandra Ochocka, Justyna Paprocka   +3 more
doaj   +2 more sources

The Niemann-Pick type diseases - A synopsis of inborn errors in sphingolipid and cholesterol metabolism.

Progress in lipid research, 2023
Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the underlying mechanisms and the development of efficient therapies represent formidable challenges for biomedical research.
Frank W. Pfrieger
semanticscholar   +1 more source

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment

Frontiers in Neurology, 2022
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene.
Paulo Ribeiro Nóbrega, Paulo Ribeiro Nóbrega, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sá Araújo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger, Helena Fussiger, Carolina de Figueiredo Santos, Carolina de Figueiredo Santos, Daniel Aguiar Dias, André Luíz Santos Pessoa, André Luíz Santos Pessoa, Wladimir Bocca Vieira de Rezende Pinto, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Pedro Braga-Neto, Pedro Braga-Neto   +20 more
doaj   +1 more source