Annet M. Bosch

Amsterdam, NH 1105AZ, Netherlands

Last Updated: 09/26/2026

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Found 117 publications

Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases.

Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases.

Journal: International journal of neonatal screening
Published: May 25, 2026

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.

Journal: Journal of inherited metabolic disease
Published: January 06, 2026

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Journal: International journal of neonatal screening
Published: November 24, 2025

Medicine Development and Access for Rare Diseases: Can We Do Better?

Medicine Development and Access for Rare Diseases: Can We Do Better?

Journal: Journal of inherited metabolic disease
Published: August 02, 2025

Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS Program.

Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS Program.

Journal: Metabolites
Published: August 01, 2025

Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies.

Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies.

Journal: Journal of inherited metabolic disease
Published: July 22, 2025

Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic Review.

Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic Review.

Journal: Journal of inherited metabolic disease
Published: May 20, 2025

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.

Journal: Journal of inherited metabolic disease
Published: April 25, 2025

Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone.

Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone.

Journal: International journal of neonatal screening
Published: April 09, 2025

Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.

Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.

Journal: Journal of inherited metabolic disease
Published: March 14, 2025

European guidelines on diagnosis and treatment of phenylketonuria: First revision.

European guidelines on diagnosis and treatment of phenylketonuria: First revision.

Journal: Molecular genetics and metabolism
Published: January 05, 2025

The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands.

The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands.

Journal: International journal of neonatal screening
Published: September 04, 2024
Showing 1-12 of 117

Last Updated: 09/26/2026