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
LONP1 regulation of mitochondrial protein folding provides insight into beta cell failure in type 2 diabetes

article Full Text OpenAlex

Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease

article Full Text OpenAlex

Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease

article Full Text OpenAlex

Reevaluating bicarbonate therapy in pediatric DKA: A propensity score-matched analysis of neurological and respiratory outcomes

article Full Text OpenAlex

Biotechnological approaches and therapeutic potential of mitochondria transfer and transplantation

review Full Text OpenAlex

Glutamine Metabolism: Molecular Regulation, Biological Functions, and Diseases

review Full Text OpenAlex

Mitochondrial Transplantation: A Novel Therapeutic Approach for Treating Diseases

review Full Text OpenAlex

The First Reverse Phase HPLC Method Validation for Analysis of Glycerol Phenylbutyrate in Pharmaceutical Formulation

article Full Text OpenAlex

One of the Short-Chain Fatty Acids (SCFAs), Sodium Propionate, Can Reduce the Dosage of Sishen Pill in Regulating the Intestinal Microbiota in Diarrhea with Kidney-Yang Deficiency Syndrome

article Full Text OpenAlex

A mitochondrial disease model is generated and corrected using engineered base editors in rat zygotes

article Full Text OpenAlex

近5年高被引文献
The assembly, regulation and function of the mitochondrial respiratory chain

review Full Text OpenAlex 658 FWCI14.493

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 625 FWCI116.036

Mitochondrial dynamics in health and disease: mechanisms and potential targets

review Full Text OpenAlex 575 FWCI30.116

Mitochondrial fusion and fission: The fine‐tune balance for cellular homeostasis

review Full Text OpenAlex 448 FWCI8.9

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

review Full Text OpenAlex 391 FWCI9.515

Mitochondrial dysfunction: mechanisms and advances in therapy

review Full Text OpenAlex 389 FWCI63.941

Multifaceted mitochondria: moving mitochondrial science beyond function and dysfunction

review Full Text OpenAlex 364 FWCI19.526

Phenylketonuria

review Full Text OpenAlex 350 FWCI9.943

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

article Full Text OpenAlex 349 FWCI131.78

Mitochondria in health, disease, and aging

review Full Text OpenAlex 346 FWCI18.809