JCSM Rapid Communications
Published: (2020)

The Heterogeneity of Cancer Metabolism
Published: (2021)

Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders
by: Calogera M. Simonaro, et al.
Published: (2024)

From Ethnobotany to Immunometabolism: Network Pharmacology Analysis of Nigerian Medicinal Plants as Modulators of Immune-Metabolic Pathways in Obesity and Type 2 Diabetes
by: Jesutofunmi Adeyemi Samson
Published: (2026)

Exploring RNA therapeutics for urea cycle disorders
by: Eva Richard, et al.
Published: (2024)

Physiology of acid-base balance in bovines with diarrhea backgrounds from Monteria, Colombia
by: César Betancur H
Published: (2015)

Therapeutic Advances in Endocrinology and Metabolism
Published: (2019)

Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders
by: Marshall Summar
Published: (2024)

Exploration of Endocrine and Metabolic Diseases
Published: (2026)

Endocrinology Insights
Published: (2025)

Brain morphometry in hepatic Wilson disease patients
by: Parya Rahimi, et al.
Published: (2024)

Unifying biology of neurodegeneration in lysosomal storage diseases
by: Anna M. Ludlaim, et al.
Published: (2025)

Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases
by: Hortense de Calbiac, et al.
Published: (2024)

Liver‐directed gene therapy for inherited metabolic diseases
by: Julien Baruteau, et al.
Published: (2024)

Mission possible: Gene therapy for inherited metabolic diseases
by: Julien Baruteau, et al.
Published: (2024)

Neuronopathic Gaucher disease: Rare in the West, common in the East
by: Ozlem Goker‐Alpan, et al.
Published: (2024)

A 6‐month randomized controlled trial for vitamin E supplementation in pediatric patients with Gaucher disease: Effect on oxidative stress, disease severity and hepatic complications
by: Amira Abdel Moneam Adly, et al.
Published: (2024)

What can pediatricians learn from adult inherited metabolic diseases?
by: Fanny Mochel
Published: (2024)

Comparative analysis of gene and disease selection in genomic newborn screening studies
by: Isabel R. Betzler, et al.
Published: (2024)

Diabetes & Metabolism Journal
Published: (2016)

Endocrine and Metabolic Science
Published: (2021)

Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms
by: Leslie Bercu, et al.
Published: (2024)

Epidemiology and economic burden of Wilson disease in France: A nationwide population‐based study
by: Shona Fang, et al.
Published: (2024)

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy
by: Christoph Kampmann, et al.
Published: (2024)

Executive and adaptive function impacts long‐term outcomes for adults with maple syrup urine disease
by: Jessica I. Gold, et al.
Published: (2024)

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening
by: Elena Schnabel‐Besson, et al.
Published: (2024)

The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease
by: Moritz Ilan Truninger, et al.
Published: (2024)

Regulatory news: Cipaglucosidase alfa‐atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late‐onset Pompe disease
by: Daniela V. Luquetti, et al.
Published: (2024)

Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria
by: Eline C. B. Eskes, et al.
Published: (2024)

Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease
by: Juan Ramón Tejedor, et al.
Published: (2024)

Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey
by: Julia Neugebauer, et al.
Published: (2024)

Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment
by: Terry G. J. Derks, et al.
Published: (2024)

Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning
by: J. J. A. van den Dorpel, et al.
Published: (2024)

Use of pure recombinant human enzymes to assess the disease‐causing potential of missense mutations in urea cycle disorders, applied to N‐acetylglutamate synthase deficiency
by: Nadine Gougeard, et al.
Published: (2024)

A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies
by: Myrl Holida, et al.
Published: (2024)

Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3‐related CD27 expression in CD4 T cells in Fabry disease
by: Wladimir Mauhin, et al.
Published: (2024)