Henk J. Blom

University of Antwerp — Belgium

Medicine · Health Sciences

95h-index37.8kcitations522works2.22yr avg
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Research Topics

Folate and B Vitamins Research(348), Esophageal and GI Pathology(118), Metabolism and Genetic Disorders(108), Amino Acid Enzymes and Metabolism(39), Pregnancy and preeclampsia studies(33)

Publications506 total

From ‘best practice’ to ‘best Fit’. Evaluating the implementation of Video Reflexive Ethnography as an improvement tool in a NICU setting
SSM - Qualitative Research in Health·2025Open Access
Cystathionine β‐Synthase Deficiency in the E‐<scp>HOD</scp> Registry—Part <scp>II</scp>: Dietary and Pharmacological Treatment
Journal of Inherited Metabolic Disease·2025· 3 citedOpen Access
Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment
FreiDok plus (Universitätsbibliothek Freiburg)·2025Open Access
5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings
JIMD Reports·2024· 1 citedOpen Access
The effect of diet-induced weight loss on circulating homocysteine levels in people with obesity and type 2 diabetes
Nutrition Journal·2024· 7 citedOpen Access
Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data
Metabolites·2023· 2 citedOpen Access
P561: Population-based incidence estimates of classical homocystinuria using the Genome Aggregation Database (gnomAD)
Genetics in Medicine Open·2023Open Access
Homocysteine and methylmalonic acid in Phenylketonuria patients
Genetics and Molecular Biology·2023· 1 citedOpen Access
Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores
Molecular Genetics and Metabolism·2022· 9 citedOpen Access
Postauthorization safety study of betaine anhydrous
Journal of Inherited Metabolic Disease·2022· 11 citedOpen Access
Disorders of Sulfur Amino Acid Metabolism
2022· 5 cited
Liver and brain differential expression of one-carbon metabolism genes during ontogenesis
Scientific Reports·2021· 9 citedOpen Access
Prioritizing disease-causing metabolic genes by integrating metabolomics with whole exome sequencing data
2021Open Access
Abnormal <scp>VLCADD</scp> newborn screening resembling <scp>MADD</scp> in four neonates with decreased riboflavin levels and <scp>VLCAD</scp> activity
JIMD Reports·2021· 6 citedOpen Access
Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism
Metabolites·2020· 15 citedOpen Access
Cystathionine β‐synthase deficiency in the <scp>E‐HOD registry‐part</scp> I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease·2020· 42 citedOpen Access
Incidência de homocistinúria clássica segundo número de heterozigotos em banco de dados genômicos
Lume (Universidade Federal do Rio Grande do Sul)·2020Open Access
Screening for inborn errors of metabolism using untargeted metabolomics and out-of-batch controls
2020· 1 citedOpen Access
No evidence for an association of plasma homocysteine levels and refractive error – Results from the population-based Gutenberg Health Study (GHS)
PLoS ONE·2020· 2 citedOpen Access
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases
Molecular Genetics & Genomic Medicine·2020· 43 citedOpen Access
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Frequent Co-authors

Martin den Heijer(11), G. H. J. Boers(7), Godfried H.J. Boers(7), T.K.A.B. Eskes(6), Leo A. J. Kluijtmans(5), Frans J.M. Trijbels(5), Régine P.M. Steegers‐Theunissen(5), Chris M.G. Thomas(5), Gerard M.J. Bos(4), Maurice G.A.J. Wouters(4), Isabel Tavares de Almeida(4), Per Magne Ueland(4), Phyllis Frosst(3), E M Stevens(3), F. Trijbels(3), D. G. Franken(3), Rita Castro(3), Isabel Rivera(3), W.B.J. Gerrits(3), C. Jakobs(3)