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
Loss of Mtarc1 Protects Against Steatotic Liver Disease in Mice

article Full Text OpenAlex

Redox hysteresis controls the NADH-dependent reduction of cytochrome b 5 in rat microsomes

article Full Text OpenAlex

Mitochondrial control of fuel switching via carnitine biosynthesis

article Full Text OpenAlex

Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants

article Full Text OpenAlex

Dietetic guidance for nutritional management of people with phenylketonuria receiving sepiapterin

article Full Text OpenAlex

Sertraline‐Associated Riboflavin‐Responsive Lipid Storage Myopathy: Report of Two Case

article Full Text OpenAlex

4-Phenylbutyrate rescues neurobehavioral phenotypes in SLC6A1-related encephalopathy

article Full Text OpenAlex

Associations of neonatal birth outcomes with amino acids and acylcarnitines: an observational study of over 3.3 million newborns in China

article Full Text OpenAlex

Rewiring lipid Metabolism: The central role of CPT1 in metabolic dysfunction

article Full Text OpenAlex

Structural annotation of acylcarnitines detected in SRM 1950 using collision-induced dissociation and electron-induced dissociation

article Full Text OpenAlex

近5年高被引文献
Mitochondrial dynamics in health and disease: mechanisms and potential targets

review Full Text OpenAlex 962 FWCI150.4042

Mitochondrial dysfunction: mechanisms and advances in therapy

article Full Text OpenAlex 798 FWCI191.8896

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

article Full Text OpenAlex 784 FWCI109.9831

Multifaceted mitochondria: moving mitochondrial science beyond function and dysfunction

review Full Text OpenAlex 541 FWCI87.0257

Mitochondria in health, disease, and aging

review Full Text OpenAlex 499 FWCI79.5047

Clinical Practice Guideline Revision: Management of Hyperbilirubinemia in the Newborn Infant 35 or More Weeks of Gestation

article Full Text OpenAlex 453 FWCI160.0762

Ketogenic diet for human diseases: the underlying mechanisms and potential for clinical implementations

review Full Text OpenAlex 353 FWCI39.2802

Mitochondria at the crossroads of health and disease

article Full Text OpenAlex 337 FWCI81.5285

Determinants and outcomes of mitochondrial dynamics

review Full Text OpenAlex 286 FWCI44.6048

The role of mitochondrial fission in cardiovascular health and disease

review Full Text OpenAlex 271 FWCI22.5754