专题:Metabolism and Genetic Disorders

This cluster of papers covers a wide range of topics related to metabolic disorders and biochemical genetics, including newborn screening, mitochondrial function, carnitine metabolism, phenylketonuria, tandem mass spectrometry, inborn errors of metabolism, tyrosine hydroxylase activity, and tetrahydrobiopterin biosynthesis. The papers discuss various aspects of diagnosis, management, and treatment of these disorders.
最新文献
Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy

article Full Text OpenAlex

Mitochondrial control of fuel switching via carnitine biosynthesis

article Full Text OpenAlex

An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II

article Full Text OpenAlex

Elamipretide: First Approval

article Full Text OpenAlex

Metabolic Signatures and Diagnostic Prediction Models for Coronary Artery Disease and Type 2 Diabetes Mellitus: Insights From an Exploratory Study

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Metabolic toxicity and neurological dysfunction in methylmalonic acidemia: from mechanisms to therapeutics

article Full Text OpenAlex

Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning

article Full Text OpenAlex

Metabolic phenotypes: Molecular bridges between health homeostasis and disease imbalance

article Full Text OpenAlex

LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening

article Full Text OpenAlex

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities

article Full Text OpenAlex

近5年高被引文献
Small molecule metabolites: discovery of biomarkers and therapeutic targets

article Full Text OpenAlex 896 FWCI66.5365

Acylcarnitines: Nomenclature, Biomarkers, Therapeutic Potential, Drug Targets, and Clinical Trials

article Full Text OpenAlex 515 FWCI46.9019

Metabolomic profiles predict individual multidisease outcomes

article Full Text OpenAlex 404 FWCI22.0098

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

article Full Text OpenAlex 360 FWCI42.2124

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access

article Full Text OpenAlex 301 FWCI32.3728

Branched-chain amino acids in cardiovascular disease

review Full Text OpenAlex 283 FWCI4.2409

The Role of l-Carnitine in Mitochondria, Prevention of Metabolic Inflexibility and Disease Initiation

article Full Text OpenAlex 278 FWCI25.7122

The Critical Role of the Branched Chain Amino Acids (BCAAs) Catabolism-Regulating Enzymes, Branched-Chain Aminotransferase (BCAT) and Branched-Chain α-Keto Acid Dehydrogenase (BCKD), in Human Pathophysiology

article Full Text OpenAlex 254 FWCI14.0352

International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia

review Full Text OpenAlex 251 FWCI21.1096

The Potential of Metabolomics in Biomedical Applications

article Full Text OpenAlex 227 FWCI12.153