Author

Terttu Suormala

Observed names: Suormala T, Suormala, T., Suormala, Terttu, T M Suormala, T Suormala, T. M. Suormala, T. Suormala, TERTTU SUORMALA, Terttu M Suormala

Institution: University Children's Hospital Zurich

Observed institutions: University of Vienna, Johns Hopkins University, University of Turku, University of Basel, University of Zurich, University Medical Center Freiburg, Landeskrankenhaus Feldkirch, University Children’s Hospital Basel, University Children's Hospital Zurich, Virginia Commonwealth University Medical Center, RWTH Aachen University

OpenAlex ID: A5045350052

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

2012 · David Coelho, Jaeseung C Kim, et al. · Nature Genetics · 233

PDF

Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

2007 · Friederike Hörster, Matthias R Baumgartner, et al. · Pediatric Research · 233

Spectrum of mutations inMMACHC, allelic expression, and evidence for genotype–phenotype correlations

2009 · Jordan P. Lerner-Ellis, Natascia Anastasio, et al. · Human Mutation · 216

PDF

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

2013 · Sarah C Grünert, Stephanie Müllerleile, et al. · Orphanet Journal of Rare Diseases · 181

PDF

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

2009 · Frank Rutsch, Susann Gailus, et al. · Nature Genetics · 179

Gene Identification for the cblD Defect of Vitamin B12Metabolism

2008 · David Coelho, Terttu Suormala, et al. · New England Journal of Medicine · 174

PDF

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

2013 · Hung-Chun Yu, Jennifer L. Sloan, et al. · The American Journal of Human Genetics · 134

PDF

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

2016 · D. Sean Froese, Martina Huemer, et al. · Human Mutation · 120

PDF

The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

2004 · Terttu Suormala, Matthias R. Baumgartner, et al. · Journal of Biological Chemistry · 119

Propionic acidaemia: clinical, biochemical and therapeutic aspects

1994 · W. Lehnert, W. Sperl, et al. · European Journal of Pediatrics · 119

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

2001 · Matthias R. Baumgartner, Shlomo Almashanu, et al. · Journal of Clinical Investigation · 117

PDF

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

2012 · Sarah C Grünert, Martin Stucki, et al. · Orphanet Journal of Rare Diseases · 93

PDF

Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample

1985 · Terttu Suormala, Hugo Wick, et al. · Clinica Chimica Acta · 90

Propionic acidemia: neonatal versus selective metabolic screening

2011 · S. C. Grünert, S. Müllerleile, et al. · Journal of Inherited Metabolic Disease · 88

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition

2018 · D. Sean Froese, Jolanta Kopec, et al. · Nature Communications · 85

PDF

Delayed-onset profound biotinidase deficiency

1998 · Barry Wolf, Robert J. Pomponio, et al. · The Journal of Pediatrics · 84

Biotinidase Deficiency: A Cause of Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome). Report of a Case with Lethal Outcome

1989 · E Regula Baumgartner, Terttu M Suormala, et al. · Pediatric Research · 83

Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

2015 · Patricie Burda, Alexandra Schäfer, et al. · Human Mutation · 79

Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.

1997 · E R Baumgartner, T Suormala · PubMed · 71

3-Methylcrotonyl-CoA carboxylase deficiency: Mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening

2005 · Maria Fernanda Dantas, Terttu Suormala, et al. · Human Mutation · 69

PDF

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

2015 · Martina Huemer, Regina Mulder‐Bleile, et al. · Journal of Inherited Metabolic Disease · 67

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

2014 · M. Huemer, C. Bürer, et al. · Journal of Inherited Metabolic Disease · 61

PDF

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

2011 · Martin Stucki, David Coelho, et al. · Human Molecular Genetics · 57

PDF

Five Patients with a Biotin-Responsive Defect in Holocarboxylase Formation: Evaluation of Responsiveness to Biotin Therapy in Vivo and Comparative Biochemical Studies in Vi1

1997 · Terttu Suormala, Brian Fowler, et al. · Pediatric Research · 56

Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

2004 · Matthias R. Baumgartner, M.Fernanda Dantas, et al. · The American Journal of Human Genetics · 55

PDF

Works count: 100

Citation count: 4,635

H-index: 39

I10-index: 81