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
Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study

article Full Text OpenAlex

The Complex Etiology of Sertraline‐Induced Lipid Storage Myopathy and Acquired Multiple Acyl‐ CoA Dehydrogenase Deficiency ( MADD )‐Like Syndromes: Hidden Genetic Variation, Nutritional Deficiency, and Mitochondrial Vulnerability

article Full Text OpenAlex

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials

article Full Text OpenAlex

Public and parent perspectives on genomic sequencing in newborn screening: a scoping review

article Full Text OpenAlex

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia

article Full Text OpenAlex

Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling

article Full Text OpenAlex

Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives

article Full Text OpenAlex

Considerations on the interpretation of pain-related analyses in genetic metabolic bone diseases

article Full Text OpenAlex

No QTcF Prolongation with Sepiapterin: Results From a Thorough QT Study in Healthy Subjects at Therapeutic and Supratherapeutic Doses

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Loss of Mtarc1 Protects Against Steatotic Liver Disease in Mice

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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 1060 FWCI156.1691

Mitochondrial dysfunction: mechanisms and advances in therapy

article Full Text OpenAlex 902 FWCI194.8379

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 811 FWCI106.6223

Multifaceted mitochondria: moving mitochondrial science beyond function and dysfunction

review Full Text OpenAlex 570 FWCI86.4515

Mitochondria in health, disease, and aging

review Full Text OpenAlex 530 FWCI79.5697

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

article Full Text OpenAlex 482 FWCI165.7173

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

review Full Text OpenAlex 370 FWCI39.8332

Mitochondria at the crossroads of health and disease

article Full Text OpenAlex 368 FWCI79.4506

Determinants and outcomes of mitochondrial dynamics

review Full Text OpenAlex 303 FWCI44.5355

The role of mitochondrial fission in cardiovascular health and disease

review Full Text OpenAlex 284 FWCI22.5341