يعرض 1 - 20 نتائج من 208 نتيجة بحث عن '"Suormala, Terttu"', وقت الاستعلام: 0.67s تنقيح النتائج
  1. 1
    Academic Journal
    Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency

    المؤلفون: Heuberger, Kathrin, Bailey, Henry J, Burda, Patricie, Chaikuad, Apirat, Krysztofinska, Ewelina, Suormala, Terttu, Bürer, Céline, Lutz, Seraina, Fowler, Brian, Froese, D Sean, Yue, Wyatt W, Baumgartner, Matthias R

    المصدر: Heuberger, Kathrin; Bailey, Henry J; Burda, Patricie; Chaikuad, Apirat; Krysztofinska, Ewelina; Suormala, Terttu; Bürer, Céline; Lutz, Seraina; Fowler, Brian; Froese, D Sean; Yue, Wyatt W; Baumgartner, Matthias R (2019). Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. Biochimica et Biophysica Acta. Molecular Basis of Disease, 1865(6):1265-1272.

    مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, Crystal structure, Methylmalonic aciduria, Methylmalonyl-CoA epimerase, Missense variant, Protein misfolding, Rare disease

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/181015/1/1-s2.0-S0925443919300213-main.pdf; info:pmid/30682498; urn:issn:0925-4439

    الاتاحة: https://www.zora.uzh.ch/id/eprint/181015/
    https://doi.org/10.1016/j.bbadis.2019.01.021

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  2. 2
    Academic Journal
    Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition

    المؤلفون: 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, Wyatt W.

    المساهمون: Olga-Mayenfisch Stiftung Rare Disease Initiative Zurich, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Wellcome Trust

    المصدر: Nature Communications ; volume 9, issue 1 ; ISSN 2041-1723

    الاتاحة: http://dx.doi.org/10.1038/s41467-018-04735-2
    https://www.nature.com/articles/s41467-018-04735-2.pdf
    https://www.nature.com/articles/s41467-018-04735-2

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  3. 3
    Academic Journal
    Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition

    المؤلفون: 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, Wyatt W

    المصدر: 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, Wyatt W (2018). Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition. Nature Communications, 9:2261.

    مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/160676/1/41467_2018_Article_4735.pdf; info:pmid/29891918; urn:issn:2041-1723

    الاتاحة: https://www.zora.uzh.ch/id/eprint/160676/
    https://www.zora.uzh.ch/id/eprint/160676/1/41467_2018_Article_4735.pdf

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  4. 4
    Academic Journal
    Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1

    المؤلفون: Fettelschoss, Victoria, Burda, Patricie, Sagné, Corinne, Coelho, David, De Laet, Corinne, Lutz, Seraina, Suormala, Terttu, Fowler, Brian, Pietrancosta, Nicolas, Gasnier, Bruno, Bornhauser, Beat, Froese, D Sean, Baumgartner, Matthias R

    المصدر: Fettelschoss, Victoria; Burda, Patricie; Sagné, Corinne; Coelho, David; De Laet, Corinne; Lutz, Seraina; Suormala, Terttu; Fowler, Brian; Pietrancosta, Nicolas; Gasnier, Bruno; Bornhauser, Beat; Froese, D Sean; Baumgartner, Matthias R (2017). Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1. Journal of Biological Chemistry, 292(28):11980-11991.

    مصطلحات موضوعية: Medical Clinic, Zurich Center for Integrative Human Physiology (ZIHP), 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/144090/1/11980.full.pdf; info:pmid/28572511; urn:issn:0021-9258

    الاتاحة: https://www.zora.uzh.ch/id/eprint/144090/
    https://www.zora.uzh.ch/id/eprint/144090/1/11980.full.pdf
    https://doi.org/10.1074/jbc.M117.784819

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  5. 5
    Report
    Genetic, structural, and functional analysis of mutations causing methylmalonyl-CoA epimerase deficiency

    المؤلفون: Heuberger, Kathrin, Bailey, Henry J, Burda, Patricie, Chaikuad, Apirat, Krysztofinska, Ewelina, Suormala, Terttu, Bürer, Céline, Lutz, Seraina, Fowler, Brain, Froese, D Sean, Yue, Wyatt W, Baumgartner, Matthias R

    المصدر: Heuberger, Kathrin; Bailey, Henry J; Burda, Patricie; Chaikuad, Apirat; Krysztofinska, Ewelina; Suormala, Terttu; Bürer, Céline; Lutz, Seraina; Fowler, Brain; Froese, D Sean; Yue, Wyatt W; Baumgartner, Matthias R (2018). Genetic, structural, and functional analysis of mutations causing methylmalonyl-CoA epimerase deficiency. bioRxiv 484048, Cold Spring Harbor Laboratory.

    مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/181019/1/484048v1.full.pdf; urn:issn:2164-7844

    الاتاحة: https://www.zora.uzh.ch/id/eprint/181019/
    https://www.zora.uzh.ch/id/eprint/181019/1/484048v1.full.pdf
    https://doi.org/10.1101/484048

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  6. 6
    Academic Journal
    Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

    المؤلفون: Huemer, Martina, Mulder-Bleile, Regina, Burda, Patricie, Froese, D. Sean, Suormala, Terttu, Zeev, Bruria Ben, Chinnery, Patrick F., Dionisi-Vici, Carlo, Dobbelaere, Dries, Gökcay, Gülden, Demirkol, Mübeccel, Häberle, Johannes, Lossos, Alexander, Mengel, Eugen, Morris, Andrew A., Niezen-Koning, Klary E., Plecko, Barbara, Parini, Rossella, Rokicki, Dariusz, Schiff, Manuel, Schimmel, Mareike, Sewell, Adrian C., Sperl, Wolfgang, Spiekerkoetter, Ute, Steinmann, Beat, Taddeucci, Grazia, Trejo-Gabriel-Galán, Jose M., Trefz, Friedrich, Tsuji, Megumi, Vilaseca, María Antònia, von Kleist-Retzow, Jürgen-Christoph, Walker, Valerie, Zeman, Jiri, Baumgartner, Matthias R., Fowler, Brian

    مصطلحات موضوعية: ddc:610

    وصف الملف: application/pdf

    الاتاحة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/89858
    https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-898580
    https://doi.org/10.1007/s10545-015-9860-6
    https://opus.bibliothek.uni-augsburg.de/opus4/files/89858/89858.pdf

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  7. 7
    Academic Journal
    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

    المؤلفون: Palhais, Bruno, Præstegaard, Veronica S, Sabaratnam, Rugivan, Doktor, Thomas Koed, Lutz, Seraina, Burda, Patricie, Suormala, Terttu, Baumgartner, Matthias R, Fowler, Brian, Bruun, Gitte Hoffmann, Andersen, Henriette Skovgaard, Kožich, Viktor, Andresen, Brage Storstein

    المصدر: Palhais, Bruno; Præstegaard, Veronica S; Sabaratnam, Rugivan; Doktor, Thomas Koed; Lutz, Seraina; Burda, Patricie; Suormala, Terttu; Baumgartner, Matthias R; Fowler, Brian; Bruun, Gitte Hoffmann; Andersen, Henriette Skovgaard; Kožich, Viktor; Andresen, Brage Storstein (2015). 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. Nucleic Acids Research, 43(9):4627-4639.

    مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/118598/1/Nucl.%20Acids%20Res.-2015-Palhais-4627-39.pdf; info:pmid/25878036; urn:issn:0305-1048

    الاتاحة: https://www.zora.uzh.ch/id/eprint/118598/
    https://doi.org/10.1093/nar/gkv275

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  8. 8
    Academic Journal
    Characterization of functional domains of the cblD (MMADHC) gene product

    المؤلفون: Jusufi, Jehona, Suormala, Terttu, Burda, Patricie, Fowler, Brian, Froese, D Sean, Baumgartner, Matthias R

    المصدر: Jusufi, Jehona; Suormala, Terttu; Burda, Patricie; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2014). Characterization of functional domains of the cblD (MMADHC) gene product. Journal of Inherited Metabolic Disease, 37(5):841-849.

    مصطلحات موضوعية: Medical Clinic, Zurich Center for Integrative Human Physiology (ZIHP), 570 Life sciences, biology, 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/103315/1/ZORA_NL_103315.pdf; info:pmid/24722857; urn:issn:0141-8955

    الاتاحة: https://www.zora.uzh.ch/id/eprint/103315/
    https://www.zora.uzh.ch/id/eprint/103315/1/ZORA_NL_103315.pdf

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  9. 9
    Academic Journal
    Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

    المؤلفون: Grünert, Sarah C, Müllerleile, Stephanie, De Silva, Linda, Barth, Michael, Walter, Melanie, Walter, Kerstin, Meissner, Thomas, Lindner, Martin, Ensenauer, Regina, Santer, René, Bodamer, Olaf A, Baumgartner, Matthias R, Brunner-Krainz, Michaela, Karall, Daniela, Haase, Claudia, Knerr, Ina, Marquardt, Thorsten, Hennermann, Julia B, Steinfeld, Robert, Beblo, Skadi, Koch, Hans-Georg, Konstantopoulou, Vassiliki, Scholl-Bürgi, Sabine, van Teeffelen-Heithoff, Agnes, Suormala, Terttu, Sperl, Wolfgang, Kraus, Jan P, Superti-Furga, Andrea, Schwab, Karl Otfried, Sass, Jörn Oliver

    المصدر: Grünert, Sarah C; Müllerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, René; Bodamer, Olaf A; Baumgartner, Matthias R; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Bürgi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P; Superti-Furga, Andrea; Schwab, Karl Otfried; Sass, Jörn Oliver (2013). Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet Journal of Rare Diseases, 8:6.

    مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/79574/1/79574.pdf; info:pmid/23305374; urn:issn:1750-1172

    الاتاحة: https://www.zora.uzh.ch/id/eprint/79574/
    https://www.zora.uzh.ch/id/eprint/79574/1/79574.pdf

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  10. 10
    Academic Journal
    Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

    المؤلفون: Gruenert, Sarah Catharina, Muellerleile, Stephanie, De Silva, Linda, Barth, Michael, Walter, Melanie, Walter, Kerstin, Meissner, Thomas, Lindner, Martin, Ensenauer, Regina, Santer, Rene, Bodamer, Olaf A., Baumgartner, Matthias R., Brunner-Krainz, Michaela, Karall, Daniela, Haase, Claudia, Knerr, Ina, Marquardt, Thorsten, Hennermann, Julia B., Steinfeld, Robert, Beblo, Skadi, Koch, Hans-Georg, Konstantopoulou, Vassiliki, Scholl-Buergi, Sabine, van Teeffelen-Heithoff, Agnes, Suormala, Terttu, Sperl, Wolfgang, Kraus, Jan P., Superti-Furga, Andrea, Schwab, Karl Otfried, Sass, Joern Oliver

    Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/30970; 000315084600001; https://resolver.sub.uni-goettingen.de/purl?gs-1/10751

    الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/30970
    https://resolver.sub.uni-goettingen.de/purl?gs-1/10751
    https://doi.org/10.1186/1750-1172-8-6

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  11. 11
    Academic Journal
    An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

    المؤلفون: Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.

    المصدر: The American Journal of Human Genetics ; volume 93, issue 3, page 506-514 ; ISSN 0002-9297

    الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2013.07.022
    https://api.elsevier.com/content/article/PII:S000292971300342X?httpAccept=text/plain
    https://api.elsevier.com/content/article/PII:S000292971300342X?httpAccept=text/xml

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  12. 12
    Academic Journal
    3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

    المؤلفون: Grünert, Sarah C, Stucki, Martin, Morscher, Raphael J, Suormala, Terttu, Bürer, Celine, Burda, Patricie, Christensen, Ernst, Ficicioglu, Can, Herwig, Jürgen, Kölker, Stefan, Möslinger, Dorothea, Pasquini, Elisabetta, Santer, René, Schwab, K Otfried, Wilcken, Bridget, Fowler, Brian, Yue, Wyatt W, Baumgartner, Matthias R

    المصدر: Grünert, Sarah C; Stucki, Martin; Morscher, Raphael J; Suormala, Terttu; Bürer, Celine; Burda, Patricie; Christensen, Ernst; Ficicioglu, Can; Herwig, Jürgen; Kölker, Stefan; Möslinger, Dorothea; Pasquini, Elisabetta; Santer, René; Schwab, K Otfried; Wilcken, Bridget; Fowler, Brian; Yue, Wyatt W; Baumgartner, Matthias R (2012). 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet Journal of Rare Diseases, 7:31.

    مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/73743/1/1750-1172-7-31.pdf; info:pmid/22642865; urn:issn:1750-1172

    الاتاحة: https://www.zora.uzh.ch/id/eprint/73743/

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  13. 13
    Academic Journal
    Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism

    المؤلفون: 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, Holger, Robenek, Horst, Höhne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A, Majewski, Jacek, Rosenblatt, David S, Fowler, Brian, Rutsch, Frank, Baumgartner, Matthias R

    المصدر: 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, Holger; Robenek, Horst; Höhne, Wolfgang; Longo, Nicola; Pasquali, Marzia; Mengel, Eugen; Watkins, David; Shoubridge, Eric A; Majewski, Jacek; Rosenblatt, David S; Fowler, Brian; Rutsch, Frank; Baumgartner, Matthias R (2012). Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism. Nature Genetics, 44(10):1152-1155.

    مصطلحات موضوعية: Medical Clinic, Zurich Center for Integrative Human Physiology (ZIHP), 570 Life sciences, biology, 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/65573/1/aMCoelho_Nat_Genet_-S1_2012.pdf; https://www.zora.uzh.ch/id/eprint/65573/2/Coelho_Nat_Genet_2012.pdf; info:pmid/22922874; urn:issn:1061-4036

    الاتاحة: https://www.zora.uzh.ch/id/eprint/65573/
    https://www.zora.uzh.ch/id/eprint/65573/2/Coelho_Nat_Genet_2012.pdf
    https://doi.org/10.1038/ng.2386

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  14. 14
    Academic Journal
    Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

    المؤلفون: Stucki, Martin, Coelho, David, Suormala, Terttu, Burda, Patricie, Fowler, Brian, Baumgartner, Matthias R

    المصدر: Stucki, Martin; Coelho, David; Suormala, Terttu; Burda, Patricie; Fowler, Brian; Baumgartner, Matthias R (2012). Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. Human Molecular Genetics, 21(6):1410-1418.

    مصطلحات موضوعية: Medical Clinic, Zurich Center for Integrative Human Physiology (ZIHP), 570 Life sciences, biology, 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/63106/1/Stucki_Baumgartner_HumMolGenet_12.pdf; https://www.zora.uzh.ch/id/eprint/63106/4/Stucki_et_al_Molecular_mechanisms.pdf; info:pmid/22156578; urn:issn:0964-6906

    الاتاحة: https://www.zora.uzh.ch/id/eprint/63106/
    https://www.zora.uzh.ch/id/eprint/63106/1/Stucki_Baumgartner_HumMolGenet_12.pdf
    https://www.zora.uzh.ch/id/eprint/63106/4/Stucki_et_al_Molecular_mechanisms.pdf
    https://doi.org/10.1093/hmg/ddr579

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  15. 15
    Academic Journal
    Cryptic Exon Activation by Disruption of Exon Splice Enhancer

    المؤلفون: Stucki, Martin, Suormala, Terttu, Fowler, Brian, Valle, David, Baumgartner, Matthias R

    المصدر: Stucki, Martin; Suormala, Terttu; Fowler, Brian; Valle, David; Baumgartner, Matthias R (2009). Cryptic Exon Activation by Disruption of Exon Splice Enhancer. Journal of Biological Chemistry, 284(42):28953-28957.

    مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/213096/1/PIIS0021925820382636.pdf; urn:issn:0021-9258

    الاتاحة: https://www.zora.uzh.ch/id/eprint/213096/
    https://www.zora.uzh.ch/id/eprint/213096/1/PIIS0021925820382636.pdf
    https://doi.org/10.1074/jbc.m109.050674

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  16. 16
    Academic Journal
    Timing of meiotic crossing-over in Drosophila melanogaster

    المؤلفون: PORTIN, PETTER, SUORMALA, TERTTU

    المصدر: Hereditas ; volume 75, issue 2, page 267-272 ; ISSN 0018-0661

    الاتاحة: http://dx.doi.org/10.1111/j.1601-5223.1973.tb01168.x

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  17. 17
    Academic Journal
    Gene Identification for the cblD Defect of Vitamin B12Metabolism

    المؤلفون: Coelho, David, Suormala, Terttu, Stucki, Martin, Lerner-Ellis, Jordan P, Rosenblatt, David S, Newbold, Robert F, Baumgartner, Matthias R, Fowler, Brian

    المصدر: Coelho, David; Suormala, Terttu; Stucki, Martin; Lerner-Ellis, Jordan P; Rosenblatt, David S; Newbold, Robert F; Baumgartner, Matthias R; Fowler, Brian (2008). Gene Identification for the cblD Defect of Vitamin B12Metabolism. New England Journal of Medicine, 358(14):1454-1464.

    مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/181036/1/nejmoa072200.pdf; info:pmid/18385497; urn:issn:0028-4793

    الاتاحة: https://www.zora.uzh.ch/id/eprint/181036/
    https://www.zora.uzh.ch/id/eprint/181036/1/nejmoa072200.pdf
    https://doi.org/10.1056/nejmoa072200

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  18. 18
    Academic Journal
    Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

    المؤلفون: Hörster, Friederike, Baumgartner, Matthias R, Viardot, Caroline, Suormala, Terttu, Burgard, Peter, Fowler, Brian, Hoffmann, Georg F, Garbade, Sven F, Kölker, Stefan, Baumgartner, E Regula

    المصدر: Pediatric Research ; volume 62, issue 2, page 225-230 ; ISSN 0031-3998 1530-0447

    الاتاحة: http://dx.doi.org/10.1203/pdr.0b013e3180a0325f

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  19. 19
    Academic Journal
    The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

    المؤلفون: Suormala, Terttu, Baumgartner, Matthias R, Coelho, David, Zavadakova, Petra, Kožich, Viktor, Koch, Hans Georg, Berghaüser, Martin, Wraith, James E, Burlina, Alberto, Sewell, Adrian, Herwig, Jürgen, Fowler, Brian

    المصدر: Suormala, Terttu; Baumgartner, Matthias R; Coelho, David; Zavadakova, Petra; Kožich, Viktor; Koch, Hans Georg; Berghaüser, Martin; Wraith, James E; Burlina, Alberto; Sewell, Adrian; Herwig, Jürgen; Fowler, Brian (2004). The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis. Journal of Biological Chemistry, 279(41):42742-42749.

    مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/181054/1/J._Biol._Chem.-2004-Suormala-42742-9.pdf; info:pmid/15292234; urn:issn:0021-9258

    الاتاحة: https://www.zora.uzh.ch/id/eprint/181054/
    https://doi.org/10.1074/jbc.m407733200

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  20. 20
    Academic Journal
    Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

    المؤلفون: Baumgartner, Matthias R, Dantas, M Fernanda, Suormala, Terttu, Almashanu, Shlomo, Giunta, Cecilia, Friebel, Dolores, Gebhardt, Boris, Fowler, Brian, Hoffmann, Georg F, Baumgartner, E Regula, Valle, David

    المصدر: Baumgartner, Matthias R; Dantas, M Fernanda; Suormala, Terttu; Almashanu, Shlomo; Giunta, Cecilia; Friebel, Dolores; Gebhardt, Boris; Fowler, Brian; Hoffmann, Georg F; Baumgartner, E Regula; Valle, David (2004). Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy. American Journal of Human Genetics, 75(5):790-800.

    مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

    وصف الملف: application/pdf

    Relation: https://www.zora.uzh.ch/id/eprint/181053/1/AJHGv75p790.pdf; info:pmid/15359379; urn:issn:0002-9297

    الاتاحة: https://www.zora.uzh.ch/id/eprint/181053/
    https://www.zora.uzh.ch/id/eprint/181053/1/AJHGv75p790.pdf
    https://doi.org/10.1086/425181

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