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8 Ergebnisse 1
Postprint
Consortium of Swiss Academic Libraries

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Fischer, Sabine ; Huemer, Martina ; Baumgartner, Matthias ; Deodato, Federica ; Ballhausen, Diana ; Boneh, Avihu ; Burlina, Alberto ; Cerone, Roberto ; Garcia, Paula ; Gökçay, Gülden ; Grünewald, Stephanie ; Häberle, Johannes ; Jaeken, Jaak ; Ketteridge, David ; Lindner, Martin ; Mandel, Hanna ; Martinelli, Diego ; Martins, Esmeralda ; Schwab, Karl ; Gruenert, Sarah ; Schwahn, Bernd ; Sztriha, László ; Tomaske, Maren ; Trefz, Friedrich ; Vilarinho, Laura ; Rosenblatt, David ; Fowler, Brian ; Dionisi-Vici, Carlo

In: Journal of Inherited Metabolic Disease, 2014, vol. 37, no. 5, p. 831-840

Postprint
Consortium of Swiss Academic Libraries

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

Jusufi, Jehona ; Suormala, Terttu ; Burda, Patricie ; Fowler, Brian ; Froese, D. ; Baumgartner, Matthias

In: Journal of Inherited Metabolic Disease, 2014, vol. 37, no. 5, p. 841-849

Postprint
Consortium of Swiss Academic Libraries

Methylmalonic aciduria articles

Fowler, Brian

In: Journal of Inherited Metabolic Disease, 2008, vol. 31, no. 1, p. 4-4

Postprint
Consortium of Swiss Academic Libraries

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia

Fofou-Caillierez, Ma'atem B. ; Mrabet, Nadir T. ; Chéry, Céline ; Dreumont, Natacha ; Flayac, Justine ; Pupavac, Mihaela ; Paoli, Justine ; Alberto, Jean-Marc ; Coelho, David ; Camadro, Jean-Michel ; Feillet, François ; Watkins, David ; Fowler, Brian ; Rosenblatt, David S. ; Guéant, Jean-Louis

In: Human Molecular Genetics, 2013, vol. 22, no. 22, p. 4591-4601

Postprint
Consortium of Swiss Academic Libraries

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

Stucki, Martin ; Coelho, David ; Suormala, Terttu ; Burda, Patricie ; Fowler, Brian ; Baumgartner, Matthias R.

In: Human Molecular Genetics, 2012, vol. 21, no. 6, p. 1410-1418

Postprint
Consortium of Swiss Academic Libraries

Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level

Kozich, Viktor ; Kraus, Eva ; de Franchis, Raffaella ; Fowler, Brian ; Boers, Godfried H.J. ; Graham, Ian ; Kraus, Jan P.

In: Human Molecular Genetics, 1995, vol. 4, no. 4, p. 623-629

Postprint
Consortium of Swiss Academic Libraries

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

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

In: Nucleic Acids Research, 2015, vol. 43, no. 9, p. 4627-4639

Postprint
Consortium of Swiss Academic Libraries

Defects in Human Methionine Synthase in cblG Patients

Gulati, Sumedha ; Baker, Priscilla ; Li, Yunan N. ; Fowler, Brian ; Kruger, Warren ; Brody, Lawrence C. ; Banerjee, Ruma

In: Human Molecular Genetics, 1996, vol. 5, no. 12, p. 1859-1865

8 Ergebnisse 1