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Mari‐Anne Vals

Observed names: Mari-Anne Vals, Vals, Mari-Anne
ORCID: 0000-0001-9231-6835
Observed ORCID: 0000-0001-9231-6835
OpenAlex ID: A5076451263
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
2019 · Ruqaiah Altassan, Romain Péanne, et al. · Journal of Inherited Metabolic Disease · 149
International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management
2020 · Ruqaiah Altassan, Silvia Radenkovic, et al. · Journal of Inherited Metabolic Disease · 67
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Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients
2019 · Mari‐Anne Vals, Angel Ashikov, et al. · Journal of Inherited Metabolic Disease · 50
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Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes
2015 · Mari-Anne Vals, Tiina Kahre, et al. · Molecular Syndromology · 48
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016
2019 · Maria Yakoreva, Tiina Kahre, et al. · European Journal of Human Genetics · 40
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The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients
2017 · Mari-Anne Vals, Sander Pajusalu, et al. · JIMD Reports · 37
High incidence of low vitamin B12 levels in Estonian newborns
2018 · Karit Reinson, Kadi Künnapas, et al. · Molecular Genetics and Metabolism Reports · 32
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The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases
2021 · Sander Pajusalu, Mari-Anne Vals, et al. · Frontiers in Genetics · 26
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Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene
2014 · Mari-Anne Vals, Eve Õiglane-Shlik, et al. · European Journal of Human Genetics · 25
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Follow‐up study of 2‐year‐olds born at very low gestational age in E stonia
2012 · Liis Toome, Heili Varendi, et al. · Acta Paediatrica · 24
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
2021 · Peter T. A. Linders, Eveline C. F. Gerretsen, et al. · Nature Communications · 23
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Three families with mild PMM2‐CDG and normal cognitive development
2017 · Mari‐Anne Vals, Eva Morava, et al. · American Journal of Medical Genetics Part A · 22
MOGS‐ CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases
2023 · Merel A. Post, Isis de Wit, et al. · Journal of Inherited Metabolic Disease · 17
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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG
2024 · Sander Pajusalu, Mari-Anne Vals, et al. · Human Mutation · 11
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The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver–Russell Syndrome and Beckwith–Wiedemann Syndrome
2015 · Mari-Anne Vals, Maria Yakoreva, et al. · Genetic Testing and Molecular Biomarkers · 10
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations
2024 · Veronika Holubova, Rita Barone, et al. · Journal of Inherited Metabolic Disease · 6
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ACTG2 -Related Visceral Myopathy: Case Reports with Phenotypic Variations and Review of the Previously Published Cases
2025 · Eva-Liina Süüden, Eliisa Appelberg, et al. · Fetal and Pediatric Pathology · 1
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AO-03. Gestational age-related morbidity and treatment procedures in newborns born between 32 0/7 and 36 6/7 gestational weeks in Estonia
2010 · Mari-Anne Vals, Liis Toome, et al. · Early Human Development · 1
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
2020 · Linders, Peter, Gerretsen, Eveline, et al. · University of Groningen research database (University of Groningen / Centre for Information Technology)
Congenital N-glycosylation disorders in Estonia
2019 · Mari‐Anne Vals · DSpace repository (University of Tartu)
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Vermimishäired: kirjanduse ülevaade ja haigusjuhtude kirjeldus
2017 · Yakoreva, Maria, Vals, Mari-Anne, et al. · Ajakirjad. Journals by UT
Vastsündinute laiendatud sõeluurimise juurutamine Eestis 19 kaasasündinud ainevahetushaiguse suhtes: esimese 1,5 aasta tulemuste kokkuvõte
2016 · Reinson, Karit, Ilo, Ursula, et al. · Ajakirjad. Journals by UT
N-glükosüülimise kaasasündinud defektid: kirjanduse ülevaade ja haigusjuhu kirjeldus
2014 · Vals, Mari-Anne, Joost, Kairit, et al. · Ajakirjad. Journals by UT
Respiratory infections in very low gestational age infants: a population-based cohort study in Estonia
2014 · Liis Toome, Silvi Plado, et al. · Journal of pediatric and neonatal individualized medicine
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Works count: 24
Citation count: 589
H-index: 13
I10-index: 15
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