Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency

A configuration interaction approach to solve the Anderson impurity model; applications to elemental Ce.

npj computational materials·2025

The ALT-SPF ring study - in vitro determination of the SPF & UVA-PF by the fused method.

International journal of cosmetic science·2025

Survey of New Zealand consumer attitudes to consumption of meat and meat alternatives.

Meat science·2023

International development of a patient-centered core outcome set for assessing health-related quality of life in metastatic breast cancer patients.

Breast cancer research and treatment·2023

Exploring Ductility in Dental Ceramics.

Journal of dental research·2022

Stabilisation of AO OTA 31-A unstable proximal femoral fractures: Does the choice of intramedullary nail affect the incidence of post-operative complications? A systematic literature review and meta-analysis.

Injury·2022

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

Journal of inherited metabolic disease·2026

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Journal of inherited metabolic disease·2026

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

Journal of inherited metabolic disease·2026

From Single Cells to Diagnosis: Proteomics Technologies in the Multi-Omics Landscape of Rare and Mitochondrial Diseases.

Journal of inherited metabolic disease·2026

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

Journal of inherited metabolic disease·2026

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures.

Journal of inherited metabolic disease·2026

The Minimum Frequency of Well-Day Capillary Blood Ketone Testing Needed to Predict 1-Month Diabetic Ketoacidosis Risk in Type 1 Diabetes.

Diabetes care·2026

Epicardial Adipose Tissue and Long-Term Outcomes in CMR-Confirmed MINOCA.

JACC. Asia·2026

Metabolic disorders and osteoarthritis: novel insights into pathological mechanisms and therapeutic strategies.

Life medicine·2026

Transporter Interactions of Methoxyflavones and Their In Vivo Pharmacokinetic Implications.

ACS omega·2026

The liver-gut-brain axis in metabolic dysfunction-associated steatotic liver disease: bidirectional communication, clinical implications, and future perspectives.

Frontiers in endocrinology·2026

Gut microbiota and the gut-liver axis in MASLD: mechanisms, immune regulation and therapeutic opportunities.

Frontiers in pharmacology·2026

Related Experiment Videos

Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency

Related Concept Videos

A configuration interaction approach to solve the Anderson impurity model; applications to elemental Ce.

The ALT-SPF ring study - in vitro determination of the SPF & UVA-PF by the fused method.

Survey of New Zealand consumer attitudes to consumption of meat and meat alternatives.

International development of a patient-centered core outcome set for assessing health-related quality of life in metastatic breast cancer patients.

Exploring Ductility in Dental Ceramics.

Stabilisation of AO OTA 31-A unstable proximal femoral fractures: Does the choice of intramedullary nail affect the incidence of post-operative complications? A systematic literature review and meta-analysis.

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

From Single Cells to Diagnosis: Proteomics Technologies in the Multi-Omics Landscape of Rare and Mitochondrial Diseases.

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures.

The Minimum Frequency of Well-Day Capillary Blood Ketone Testing Needed to Predict 1-Month Diabetic Ketoacidosis Risk in Type 1 Diabetes.

Epicardial Adipose Tissue and Long-Term Outcomes in CMR-Confirmed MINOCA.

Metabolic disorders and osteoarthritis: novel insights into pathological mechanisms and therapeutic strategies.

Transporter Interactions of Methoxyflavones and Their In Vivo Pharmacokinetic Implications.

The liver-gut-brain axis in metabolic dysfunction-associated steatotic liver disease: bidirectional communication, clinical implications, and future perspectives.

Gut microbiota and the gut-liver axis in MASLD: mechanisms, immune regulation and therapeutic opportunities.

Related Experiment Videos

Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency

Related Concept Videos

Related Articles