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1

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

Raphael J. Morscher, Sarah Catharina Grünert, Céline Bürer, Patricie Burda, Terttu Suormala, Brian Fowler, Matthias R. Baumgartner

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 166 KB

english, 2012

2

Seventeen novel mutations that cause profound biotinidase deficiency

B Wolf, K Jensen, G Hüner, M Demirkol, T Baykal, P Divry, M.-O Rolland, C Perez-Cerdá, M Ugarte, R Straussberg, L Basel-Vanagaite, E.R Baumgartner, T Suormala, S Scholl, A.M Das, S Schweitzer, E Proni

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 79 KB

english, 2002

3

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

Sarah C Grünert, Martin Stucki, Raphael J Morscher, Terttu Suormala, Celine Bürer, Patricie Burda, Ernst Christensen, Can Ficicioglu, Jürgen Herwig, Stefan Kölker, Dorothea Möslinger, Elisabetta Pasqu

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 674 KB

english, 2012

4

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

Coelho, David, Kim, Jaeseung C, Miousse, Isabelle R, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nürnberg, Peter, Thiele, Holge

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 643 KB

english, 2012

5

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

Wolfe, L. A., Finegold, D. N., Vockley, J., Walters, N., Chambaz, C., Suormala, T., Koch, H. G., Matern, D., Barshop, B. A., Cropcho, L. J., Baumgartner, M. R., Gibson, K. M.

Journal:

Year:

2007

Language:

english

File:

PDF, 276 KB

english, 2007

6

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

Froese, D. Sean, Huemer, Martina, Suormala, Terttu, Burda, Patricie, Coelho, David, Guéant, Jean-Louis, Landolt, Markus A., Kožich, Viktor, Fowler, Brian, Baumgartner, Matthias R.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.08 MB

english, 2016

7

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

Burda, Patricie, Suormala, Terttu, Heuberger, Dorothea, Schäfer, Alexandra, Fowler, Brian, Froese, D. Sean, Baumgartner, Matthias R.

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 525 KB

english, 2017

8

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

Froese, D. Sean, Kopec, Jolanta, Rembeza, Elzbieta, Bezerra, Gustavo Arruda, Oberholzer, Anselm Erich, Suormala, Terttu, Lutz, Seraina, Chalk, Rod, Borkowska, Oktawia, Baumgartner, Matthias R., Yue, W

Journal:

Nature Communications

Year:

2018

Language:

english

File:

PDF, 1.94 MB

english, 2018

9

Lack of genetic dispositions to hyperhomocysteinemia in Alzheimer disease

Michael Linnebank, Anja Linnebank, Monika Jeub, Thomas Klockgether, Ullrich Wüllner, Heike Kölsch, Reinhard Heun, Hans Georg Koch, Terttu Suormala, Brian Fowler

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 40 KB

english, 2004

10

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

Petra Zavadáková, Brian Fowler, Terttu Suormala, Zorka Novotna, Peter Mueller, Julia B. Hennermann, Jiří Zeman, M. Antonia Vilaseca, Laura Vilarinho, Sven Gutsche, Ekkehard Wilichowski, Gerd Horneff,

Journal:

Year:

2005

Language:

english

File:

PDF, 241 KB

english, 2005

11

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression

Petra Zavadáková, Brian Fowler, Terttu Suormala, Zorka Novotna, Peter Mueller, Julia B. Hennermann, Jiří Zeman, M. Antonia Vilaseca, Laura Vilarinho, Sven Gutsche, Ekkehard Wilichowski, Gerd Horneff,

Journal:

Year:

2005

Language:

english

File:

PDF, 69 KB

english, 2005

12

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

Jordan P. Lerner-Ellis, Natascia Anastasio, Junhui Liu, David Coelho, Terttu Suormala, Martin Stucki, Amanda D. Loewy, Scott Gurd, Elin Grundberg, Chantal F. Morel, David Watkins, Matthias R. Baumgart

Journal:

Year:

2009

Language:

english

File:

PDF, 218 KB

english, 2009

13

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

Maria Fernanda Dantas, Terttu Suormala, Ann Randolph, David Coelho, Brian Fowler, David Valle, Matthias R. Baumgartner

Journal:

Year:

2005

Language:

english

File:

PDF, 246 KB

english, 2005

14

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

I. Kennerknecht, T. Suormala, G. Barbi, E. R. Baumgartner

Journal:

Year:

1990

Language:

english

File:

PDF, 211 KB

english, 1990

15

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

T. Suormala, H. Wick, J. -P. Bonjour, E. R. Baumgartner

Journal:

European Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 609 KB

english, 1985

16

Cerebrospinal fluid organic acids in biotinidase deficiency

M. Duran, E. R. Baumgartner, T. M. Suormala, L. Bruinvis, L. Dorland, J. A. M. Smeitink, B. T. Poll-The

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 228 KB

english, 1993

17

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

T. M. Suormala, E. R. Baumgartner, H. Wick, S. Scheibenreiter, S. Schweitzer

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 1.22 MB

english, 1990

18

Abnormal cobalamin metabolism in fibroblasts from patients with various types of methylmalonic acidaemia

J. C. Linnell, H. R. Bhatt, T. Suormala, R. Baumgartner

Journal:

Journal of Inherited Metabolic Disease

Year:

1982

Language:

english

File:

PDF, 226 KB

english, 1982

19

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

C. Bannwart, B. Wermuth, R. Baumgartner, T. Suormala, U. N. Wiesmann

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 509 KB

english, 1992

20

Biotinidase deficiency: Factors responsible for the increased biotin requirement

E. R. Baumgartner, T. Suormala, H. Wick, J. Bausch, J. -P. Bonjour

Journal:

Journal of Inherited Metabolic Disease

Year:

1985

Language:

english

File:

PDF, 778 KB

english, 1985

21

Biotinidase deficiency: Clinical course and biochemical findings

G. Schubiger, U. Caflisch, R. Baumgartner, T. Suormala, C. Bachmann

Journal:

Journal of Inherited Metabolic Disease

Year:

1984

Language:

english

File:

PDF, 224 KB

english, 1984

22

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

R. Gitzelmann, B. Steinmann, A. Niederwieser, S. Fanconi, T. Suormala, R. Baumgartner

Journal:

Journal of Inherited Metabolic Disease

Year:

1987

Language:

english

File:

PDF, 178 KB

english, 1987

23

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

A. Fuchshuber, T. Suormala, B. Roth, M. Duran, D. Michalk, E. R. Baumgartner

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 429 KB

english, 1993

24

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

A. Ribes, P. Briones, M. A. Vilaseca, M. Lluch, M. Rodes, A. Maya, J. Campistol, P. Pascual, T. Suormala, R. Baumgartner

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 497 KB

english, 1990

25

Propionic acidaemia: clinical, biochemical and therapeutic aspects

W. Lehnert, W. Sperl, T. Suormala, E. R. Baumgartner

Journal:

European Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 1.41 MB

english, 1994

26

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

J. Mourmans, J. Bakkeren, J. de Jong, R. Wevers, O. P. van Diggelen, T. Suormala, R. Baumgartner, U. Wendel

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 209 KB

english, 1995

27

BiotinidaseKm-variants: detection and detailed biochemical investigations

T. Suormala, V. T. Ramaekers, S. Schweitzer, B. Fowler, M. C. Laub, C. Schwermer, J. Bachmann, E. R. Baumgartner

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 695 KB

english, 1995

28

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

Alain Limat, Terttu Suormala, Thomas Hunziker, Ernst R. Waelti, Lasse R. Braathen, Regula Baumgartner

Journal:

Archives of Dermatological Research

Year:

1996

Language:

english

File:

PDF, 1.05 MB

english, 1996

29

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

Dorothea Möslinger, Adolf Mühl, Terttu Suormala, Regula Baumgartner, Sylvia Stöckler-Ipsiroglu

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 161 KB

english, 2003

30

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

U. N. Wiesmann, T. Suormala, J. Pfenninger, E. R. Baumgartner

Journal:

European Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 262 KB

english, 1998

31

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

T. Suormala, B. Fowler, C. Jakobs, M. Duran, W. Lehnert, K. Raab, H. Wick, E. R. Baumgartner

Journal:

European Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 276 KB

english, 1998

32

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

C. Steen, E. R. Baumgartner, M. Duran, W. Lehnert, T. Suormala, R. Fingerhut, M. Stehn, A. Kohlschütter

Journal:

European Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 167 KB

english, 1999

33

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

Robert J. Pomponio, Karen J. Norrgard, Jeanne Hymes, Thomas R. Reynolds, Gregory A. Buck, Regula Baumgartner, Terttu Suormala, B. Wolf

Journal:

Year:

1997

Language:

english

File:

PDF, 192 KB

english, 1997

34

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency

Yoko Aoki, X. Li, Osamu Sakamoto, Masahiro Hiratsuka, Hiroshi Akaishi, Liquing Xu, Paz Briones, Terttu Suormala, E. Regula Baumgartner, Y. Suzuki, Kuniaki Narisawa

Journal:

Year:

1999

Language:

english

File:

PDF, 113 KB

english, 1999

35

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

T. Rummel, T. Suormala, J. Häberle, H. G. Koch, C. Berning, D. Perrett, B. Fowler

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 213 KB

english, 2007

36

A novel mutation inLMBRD1causes the cblF defect of vitamin B12metabolism in a Turkish patient

Susann Gailus, Terttu Suormala, Ayse Gül Malerczyk-Aktas, Mohammad R. Toliat, Tanja Wittkampf, Martin Stucki, Peter Nürnberg, Brian Fowler, Julia B. Hennermann, Frank Rutsch

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 251 KB

english, 2010

37

LMBRD1: the gene for the cblF defect of vitamin B12metabolism

Frank Rutsch, Susann Gailus, Terttu Suormala, Brian Fowler

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 185 KB

english, 2011

38

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

Rutsch, Frank, Gailus, Susann, Miousse, Isabelle R, Suormala, Terttu, Sagné, Corinne, Toliat, Mohammad Reza, Nürnberg, Gudrun, Wittkampf, Tanja, Buers, Insa, Sharifi, Azita

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 563 KB

english, 2009

39

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

E. Touma, T. Suormala, E. R. Baumgartner, B. Gerbaka, H. Ogier de Baulny, J. Loiselet

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 74 KB

english, 1999

40

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

Raquel Dodelson de Kremer, Alexandra Latini, Terttu Suormala, E. Regula Baumgartner, Laura Laróvere, Gabriel Civallero, Norberto Guelbert, Ana Paschini-Capra, Catalina Depetris-Boldini, Carlos Quiroga

Journal:

Metabolic Brain Disease

Year:

2002

Language:

english

File:

PDF, 326 KB

english, 2002

41

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

P. Zavaď'áková, B. Fowler, J. Zeman, T. Suormala, K. Pšistoupilová, V. Kožich

Journal:

Journal of Inherited Metabolic Disease

Year:

2002

Language:

english

File:

PDF, 148 KB

english, 2002

42

Inherited defects of biotin metabolism

E. Regula Baumgartner, Terttu Suormala

Journal:

Year:

1999

Language:

english

File:

PDF, 30 KB

english, 1999

43

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

Visser, Gepke, Suormala, Terttu, Smit, G. Peter A., Reijngoud, Dirk-Jan, Bink-Boelkens, Margreet Th. E., Niezen-Koning, Klary E., Baumgartner, E. Regula

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 70 KB

english, 2000

44

Odd-numbered long-chain fatty acids in propionic acidaemia

Sperl, W., Murr, C., Skladal, D., Sass, J. O., Suormala, T., Baumgartner, R., Wendel, U.

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 96 KB

english, 2000

45

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

M&#x000F6, slinger, Dorothea, St&#x000F6, ckler-Ipsiroglu, Sylvia, Scheibenreiter, Susanne, Tiefenthaler, Monika, M&#x000FC, hl, Adolf, Seidl, Rainer, Strobl, Wolfgang, Plecko, Barbara, Suormala, Terttu,

Journal:

European Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 87 KB

english, 2001

46

Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cells

Barbara Baur, Terttu Suormala, E.Regula Baumgartner

Journal:

Year:

2002

Language:

english

File:

PDF, 568 KB

english, 2002

47

Timing of meiotic crossing-over in Drosophila melanogaster

PETTER PORTIN, TERTTU SUORMALA

Journal:

Year:

1973

Language:

english

File:

PDF, 396 KB

english, 1973

48

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

R Santer, H Muhle, T Suormala, E.R Baumgartner, M Duran, X Yang, Y Aoki, Y Suzuki, U Stephani

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 117 KB

english, 2003

49

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

Terttu Suormala, Hugo Wick, Jean-Pierre Bonjour, E.Regula Baumgartner

Journal:

Clinica Chimica Acta

Year:

1985

Language:

english

File:

PDF, 894 KB

english, 1985

50

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

Terttu M. Suormala, E. Regula Baumgartner, Jochen Bausch, Wolfgang Holick, Hugo Wick

Journal:

Clinica Chimica Acta

Year:

1988

Language:

english

File:

PDF, 1.11 MB

english, 1988

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