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Last Updated: 01/07/2026

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Found 558 publications

Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations.

Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations.

Journal: Journal of child neurology
Published: November 12, 2025

Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023).

Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023).

Journal: Molecular genetics and metabolism
Published: September 18, 2025

Evaluation of dietary management and monitoring practices in pharmaceutical clinical trials for inborn errors of metabolism.

Evaluation of dietary management and monitoring practices in pharmaceutical clinical trials for inborn errors of metabolism.

Journal: Nutrition (Burbank, Los Angeles County, Calif.)
Published: July 08, 2025

Hormonal Crossroads in Inborn Errors of the Metabolism Impact of Puberty and Dietary Interventions on Metabolic Health.

Hormonal Crossroads in Inborn Errors of the Metabolism Impact of Puberty and Dietary Interventions on Metabolic Health.

Journal: Metabolites
Published: February 28, 2025

Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.

Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.

Journal: Brain & development
Published: February 27, 2025

New genetic tools to define the pathophysiology of inborn errors of cobalamin metabolism impacting mammalian development.

New genetic tools to define the pathophysiology of inborn errors of cobalamin metabolism impacting mammalian development.

Journal: Differentiation; research in biological diversity
Published: December 03, 2024

Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia.

Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia.

Journal: Molecular genetics and metabolism
Published: October 09, 2024

Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital.

Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital.

Journal: BMJ public health
Published: May 14, 2024

Untargeted Metabolomics for Inborn Errors of Metabolism: Development and Evaluation of a Sustainable Reference Material for Correcting Inter-Batch Variability.

Untargeted Metabolomics for Inborn Errors of Metabolism: Development and Evaluation of a Sustainable Reference Material for Correcting Inter-Batch Variability.

Journal: Clinical chemistry
Published: March 28, 2024

Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update.

Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update.

Journal: Seizure
Published: March 25, 2024

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.

Journal: Frontiers in genetics
Published: March 05, 2024

A treatable inborn error of metabolism presenting in the sixth decade.

A treatable inborn error of metabolism presenting in the sixth decade.

Journal: BMJ case reports
Published: February 21, 2024
Showing 1-12 of 558

Last Updated: 01/07/2026