T. Suormala

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

M. Baumgartner, S. Almashanu, T. Suormala, 2001, The Journal of clinical investigation.

Structural basis of human 5,10-methylenetetrahydrofolate reductase (MTHFR) regulation by phosphorylation and S-adenosylmethionine inhibition

G. A. Bezerra, M. Baumgartner, T. Suormala, 2018, bioRxiv.

Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children

T. Suormala, G. Buck, B. Wolf, 1997, Human Genetics.

Comparison of patients with complete and partial biotinidase deficiency: Biochemical studies

T. Suormala, E. R. Baumgartner, S. Schweitzer, 1990, Journal of Inherited Metabolic Disease.

3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father

T. Suormala, E. R. Baumgartner, D. Reijngoud, 2000, European Journal of Pediatrics.

Relationship between Kinetic Properties of Mutant Enzyme and Biochemical and Clinical Responsiveness to Biotin in Holocarboxylase Synthetase Deficiency

T. Suormala, E. R. Baumgartner, M. Hiratsuka, 1999, Pediatric Research.

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency

T. Suormala, E. R. Baumgartner, Xia Li, 1999, Human Genetics.

Delayed-onset profound biotinidase deficiency.

T. Suormala, E. R. Baumgartner, V. Ramaekers, 1998, The Journal of pediatrics.

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

T. Suormala, M. Durán, A. Fuchshuber, 1997, Pediatric Research.

Propionic acidaemia: clinical, biochemical and therapeutic aspects

T. Suormala, E. R. Baumgartner, W. Sperl, 2005, European Journal of Pediatrics.

Mutation analysis in 54 propionic acidemia patients

M. Baumgartner, T. Suormala, S. Grünert, 2012, Journal of Inherited Metabolic Disease.

Lack of genetic dispositions to hyperhomocysteinemia in Alzheimer disease

T. Suormala, T. Klockgether, H. Kölsch, 2004, American journal of medical genetics. Part A.

Leukodystrophy and CSF Purine Abnormalities Associated with Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency

T. Suormala, E. R. Baumgartner, A. Latini, 2002, Metabolic Brain Disease.

Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency

T. Suormala, E. R. Baumgartner, H. Wick, 1985, European Journal of Pediatrics.

Biotin-Responsive Multiple Carboxylase Deficiency

T. Suormala, E. R. Baumgartner, E. Baumgartner, 1995 .

Biotinidase Deficiency Associated with Renal Loss of Biocytin and Biotin

T. Suormala, E. R. Baumgartner, H. Wick, 1985, Annals of the New York Academy of Sciences.

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

M. Baumgartner, T. Suormala, G. Nürnberg, 2009, Nature Genetics.

LMBRD1: the gene for the cblF defect of vitamin B12 metabolism

T. Suormala, F. Rutsch, B. Fowler, 2011, Journal of Inherited Metabolic Disease.

A novel mutation in LMBRD1 causes the cblF defect of vitamin B12 metabolism in a Turkish patient

T. Suormala, P. Nürnberg, M. Toliat, 2010, Journal of Inherited Metabolic Disease.

Propionic acidemia: neonatal versus selective metabolic screening

M. Baumgartner, T. Suormala, S. Grünert, 2012, Journal of Inherited Metabolic Disease.

Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC).

T. Suormala, E. R. Baumgartner, J. Bausch, 1988, Clinica chimica acta; international journal of clinical chemistry.

Biotin-responsive Disorders

M. Baumgartner, T. Suormala, 2006 .

Seventeen novel mutations that cause profound biotinidase deficiency.

T. Suormala, E. R. Baumgartner, C. Pérez-Cerdá, 2002, Molecular genetics and metabolism.

Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cells

T. Suormala, E. R. Baumgartner, B. Baur, 2002, Brain Research.

The gene coding for the α-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32

T. Suormala, E. R. Baumgartner, I. Kennerknecht, 1990, Human Genetics.

Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin.

T. Suormala, R. Baumgartner, J. Geisert, 1982, Helvetica paediatrica acta.

Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation

T. Suormala, D. Perrett, J. Häberle, 2007, Journal of Inherited Metabolic Disease.

Gene identification for the cblD defect of vitamin B12 metabolism.

M. Baumgartner, T. Suormala, D. Rosenblatt, 2008, The New England journal of medicine.

Timing of meiotic crossing-over in Drosophila melanogaster.

T. Suormala, P. Portin, 2009, Hereditas.

CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families

T. Suormala, J. Zeman, V. Kožich, 2002, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, T. Suormala, S. Lorenzl, 2015, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, T. Suormala, T. Pastinen, 2009, Human mutation.

Prenatal and postnatal treatment in cobalamin C defect.

T. Suormala, J. Sass, O. Bodamer, 2005, The Journal of pediatrics.

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

T. Suormala, A. Mühl, R. Baumgartner, 2003, European Journal of Pediatrics.

Inherited defects of biotin metabolism

T. Suormala, E. Regula Baumgartner, E. Baumgartner, 1999, BioFactors.

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

T. Suormala, E. R. Baumgartner, M. Durán, 1998, European Journal of Pediatrics.

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

T. Suormala, E. R. Baumgartner, 1997, International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition.

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

T. Suormala, E. R. Baumgartner, B. Plecko, 2001, European Journal of Pediatrics.

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

T. Suormala, E. R. Baumgartner, A. Probst, 1989, Pediatric Research.

Proliferation and differentiation of cultured human follicular keratinocytes are not influenced by biotin

T. Suormala, E. Waelti, L. Braathen, 2006, Archives of Dermatological Research.

A biotinidase Km variant causing late onset bilateral optic neuropathy.

T. Suormala, E. R. Baumgartner, V. Ramaekers, 1992, Archives of disease in childhood.

Biotinidase deficiency: Factors responsible for the increased biotin requirement

T. Suormala, E. R. Baumgartner, J. Bausch, 1985, Journal of Inherited Metabolic Disease.

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

M. Baumgartner, S. Almashanu, T. Suormala, 2004, American journal of human genetics.

Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy

T. Suormala, E. R. Baumgartner, J. Loiselet, 1999, Journal of Inherited Metabolic Disease.

Holocarboxylase synthetase deficiency: Early diagnosis and management of a new case

T. Suormala, E. R. Baumgartner, M. Durán, 1993, European Journal of Pediatrics.

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

M. Baumgartner, T. Suormala, S. Grünert, 2012, Molecular genetics and metabolism.

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

T. Suormala, E. R. Baumgartner, H. Wick, 1985, Clinica chimica acta; international journal of clinical chemistry.

BiotinidaseKm-variants: detection and detailed biochemical investigations

T. Suormala, E. R. Baumgartner, V. Ramaekers, 1995, Journal of Inherited Metabolic Disease.

Detection of biocytin in urine of children with congenital biotinidase deficiency.

T. Suormala, E. R. Baumgartner, J. Bausch, 1984, International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition.

Biochemical Characterisation and Whole Genome Expression Profiling of Cultured Skin Fibroblasts from Two South African Adults with Urinary 3-Hydroxyisovaleric Acid and 3-Methylcrotonylglycine

T. Suormala, L. Berg, E. Erasmus, 2016 .

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

T. Suormala, E. R. Baumgartner, U. Stephani, 2003, Molecular genetics and metabolism.

Biotin determination by three different methods: specificity and application to urine and plasma ultrafiltrates of patients with and without disorders in biotin metabolism.

T. Suormala, E. R. Baumgartner, C. Bernoulli, 1998, International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition.

Cerebrospinal fluid organic acids in biotinidase deficiency

T. Suormala, E. R. Baumgartner, M. Durán, 1993, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, T. Suormala, W. Yue, 2012, Orphanet Journal of Rare Diseases.

Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome

T. Suormala, C. Bannwart, B. Wermuth, 1992, Journal of Inherited Metabolic Disease.

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 20 months with sopor, hypoglycaemia and ketoacidosis

T. Suormala, R. Gitzelmann, S. Fanconi, 1987, Journal of Inherited Metabolic Disease.

Biotinidase deficiency: Clinical course and biochemical findings

T. Suormala, C. Bachmann, G. Schubiger, 1984, Journal of Inherited Metabolic Disease.

Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure

T. Suormala, E. R. Baumgartner, U. Wiesmann, 1998, European Journal of Pediatrics.

Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.

T. Suormala, E. R. Baumgartner, H. Wick, 1984, Journal of inherited metabolic disease.

Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion.

T. Suormala, E. R. Baumgartner, A. Wolf, 2002, International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition.

[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony].

T. Suormala, S. Schweitzer, J. Sander, 1991, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde.

[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H].

T. Suormala, E. R. Baumgartner, I. Krägeloh-Mann, 1989, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde.

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

M. Baumgartner, T. Suormala, S. Grünert, 2013, Orphanet Journal of Rare Diseases.

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

M. Baumgartner, T. Suormala, P. Chinnery, 2016, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, T. Suormala, D. S. Froese, 2015, Human mutation.

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

E. Shoubridge, M. Baumgartner, T. Suormala, 2012, Nature Genetics.

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

M. Baumgartner, T. Suormala, E. R. Baumgartner, 2007, Pediatric Research.

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

M. Baumgartner, T. Suormala, D. S. Froese, 2016, Human mutation.

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1

M. Baumgartner, T. Suormala, D. S. Froese, 2017, The Journal of Biological Chemistry.

Cryptic Exon Activation by Disruption of Exon Splice Enhancer

M. Baumgartner, T. Suormala, D. Valle, 2009, The Journal of Biological Chemistry.

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells

M. Baumgartner, T. Suormala, T. K. Doktor, 2015, Nucleic acids research.

Syddansk Universitet Splice-shifting oligonucleotide ( SSO ) mediated blocking of an exonic splicing enhancer ( ESE ) created by the prevalent c . 903 + 469 T > C MTRR mutation corrects splicing and restores enzyme activity in patient cells

M. Baumgartner, T. Suormala, G. H. Bruun, 2015 .

Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency

M. Baumgartner, T. Suormala, W. Yue, 2014, Human mutation.

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.

M. Baumgartner, T. Suormala, E. R. Baumgartner, 2007, Molecular genetics and metabolism.

CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

T. Suormala, L. Vilarinho, M. Pineda, 2003, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, T. Suormala, P. Burda, 2012, Human molecular genetics.

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

M. Baumgartner, T. Suormala, A. Sewell, 2004, Journal of Biological Chemistry.

Odd-numbered long-chain fatty acids in propionic acidaemia

T. Suormala, J. Sass, W. Sperl, 2000, European Journal of Pediatrics.

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

G. A. Bezerra, M. Baumgartner, T. Suormala, 2018, Nature Communications.

5,10-Methylenetetrahydrofolate reductase (MTHFR) assay in the forward direction: residual activity in MTHFR deficiency.

T. Suormala, B. Fowler, G. Gamse, 2002, Clinical chemistry.

Methylene-tetrahydrofolate reductase (MTHFR) A Target Enabling Package (TEP)

G. A. Bezerra, M. Baumgartner, T. Suormala, 2019 .

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

T. Shaikh, M. Baumgartner, T. Suormala, 2013, American journal of human genetics.

Potential Misdiagnosis of 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Associated With Absent or Trace Urinary 3-Methylcrotonylglycine

M. Baumgartner, T. Suormala, L. Wolfe, 2007, Pediatrics.

Methylmalonic aciduria with homocystinuria: Biochemical studies, treatment, and clinical course of a Cbl-C patient

T. Suormala, A. Ribes, P. Briones, 1990, European Journal of Pediatrics.

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency

M. Baumgartner, T. Suormala, W. Yue, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Genetic, structural, and functional analysis of mutations causing methylmalonyl-CoA epimerase deficiency

M. Baumgartner, T. Suormala, W. Yue, 2018, bioRxiv.

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

G. A. Bezerra, M. Baumgartner, T. Suormala, 2018, Nature Communications.

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

M. Baumgartner, T. Suormala, D. Valle, 2005, Human mutation.

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system

M. Baumgartner, T. Suormala, D. S. Froese, 2017, Journal of Inherited Metabolic Disease.

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

M. Baumgartner, T. Suormala, E. Holme, 2015, Journal of Inherited Metabolic Disease.

Characterization of functional domains of the cblD (MMADHC) gene product

M. Baumgartner, T. Suormala, D. S. Froese, 2014, Journal of Inherited Metabolic Disease.

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology

T. Suormala, R. Wevers, O. Diggelen, 1995, Journal of Inherited Metabolic Disease.

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

T. Suormala, M. Durán, R. Fingerhut, 1999, European Journal of Pediatrics.

cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

T. Suormala, L. Vilarinho, J. Zeman, 2005, Human mutation.