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
Correspondence on “Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)” by Smith et al

article Full Text OpenAlex

Dietetic guidance for nutritional management of people with phenylketonuria receiving sepiapterin

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Nutritional Practices and Knowledge of Patients with Phenylketonuria

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Gut bacteria metabolize natural and synthetic steroid hormones via the reductive OsrABC pathway

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Mitochondrial dysfunction-related metabolite methylmalonic acid is associated with decreased cognitive performance

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Short-chain fatty acids as predictors of renal function decline in patients with sarcopenia and CHF

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Mitochondrial function regulates cell growth kinetics to maintain mitochondrial homeostasis

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Classical and Modified Ketogenic Diets for Children and Young People With Drug‐Resistant Epilepsy: A Reflection of International Dietetic Practice and Best Practice Recommendations for Dietitians

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SLC25A45 is required for mitochondrial uptake of methylated amino acids and de novo carnitine biosynthesis

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Long-Term Glycemic Control and the Risk of Liver Stiffness Progression and Liver-Related Events in MASLD

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

review Full Text OpenAlex 868 FWCI161.16191383

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 740 FWCI159.53792199

Mitochondrial dysfunction: mechanisms and advances in therapy

article Full Text OpenAlex 686 FWCI328.96934921

Multifaceted mitochondria: moving mitochondrial science beyond function and dysfunction

review Full Text OpenAlex 487 FWCI93.39221504

Mitochondria in health, disease, and aging

review Full Text OpenAlex 456 FWCI86.33673955

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

article Full Text OpenAlex 424 FWCI381.17335493

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

review Full Text OpenAlex 336 FWCI59.4132981

Mitochondria at the crossroads of health and disease

article Full Text OpenAlex 287 FWCI137.35070639

The role of mitochondrial fission in cardiovascular health and disease

review Full Text OpenAlex 261 FWCI31.99798108

Determinants and outcomes of mitochondrial dynamics

review Full Text OpenAlex 259 FWCI48.08863558