Mari-anne Vals

Tartu, Estonia

Last Updated: 09/26/2026

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Found 17 publications

ACTG2-Related Visceral Myopathy: Case Reports with Phenotypic Variations and Review of the Previously Published Cases.

ACTG2-Related Visceral Myopathy: Case Reports with Phenotypic Variations and Review of the Previously Published Cases.

Journal: Fetal and pediatric pathology

Published: August 17, 2025

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Journal: Journal of inherited metabolic disease

Published: July 02, 2024

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Journal: Human mutation

Published: November 30, 2023

MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.

MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.

Journal: Journal of inherited metabolic disease

Published: August 27, 2022

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.

Journal: Frontiers in genetics

Published: June 02, 2021

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

Journal: Journal of inherited metabolic disease

Published: April 20, 2020

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.

Journal: Nature communications

Published: April 10, 2020

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Journal: Journal of inherited metabolic disease

Published: February 12, 2019

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

Journal: European journal of human genetics : EJHG

Published: January 21, 2019

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Journal: Journal of inherited metabolic disease

Published: July 23, 2018

High incidence of low vitamin B12 levels in Estonian newborns.

High incidence of low vitamin B12 levels in Estonian newborns.

Journal: Molecular genetics and metabolism reports

Published: September 03, 2017

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.

Journal: JIMD reports

Published: May 06, 2017

Showing 1-12 of 17

Last Updated: 09/26/2026