Regula Baumgartner: шукати на сайті Z-Library

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

Рік:

1976

Мова:

english

Файл:

PDF, 469 KB

english, 1976

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

Журнал:

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

Рік:

1985

Мова:

english

Файл:

PDF, 894 KB

english, 1985

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

Журнал:

Рік:

1988

Мова:

english

Файл:

PDF, 1.11 MB

english, 1988

Severe Holocarboxylase Synthetase Deficiency with Incomplete Biotin Responsiveness Resulting in Antenatal Insult in Samoan Neonates

Callum J. Wilson, Michael Myer, Brian A. Darlow, Thorsten Stanley, Glen Thomson, E. Regula Baumgartner, Denise M. Kirby, David R. Thorburn

Журнал:

Thomas J. Lempp, Terttu Suormala, Renate Siegenthaler, E. Regula Baumgartner, Brian Fowler, Beat Steinmann, Matthias R. Baumgartner

Рік:

2005

Мова:

english

Файл:

PDF, 156 KB

english, 2005

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut− methylmalonic aciduria: Identification of seven novel mutations

Журнал:

Molecular Genetics and Metabolism

Рік:

2007

Мова:

english

Файл:

PDF, 369 KB

english, 2007

Biotinidase determination in serum and dried blood spots—high sensitivity fluorimetric ultramicro-assay

Elke Broda, E.Regula Baumgartner, Sabine Scholl, Marina Stopsack, Anton Horn, Heidrun Rhode

Журнал:

Рік:

2001

Мова:

english

Файл:

PDF, 139 KB

english, 2001

Delayed-onset profound biotinidase deficiency

Barry Wolf, Robert J. Pomponio, Karen J. Norrgard, Ira T. Lott, E.Regula Baumgartner, Terttu Suormala, Vincent Th. Ramaekers, Turgay Coskun, Aysegul Tokatli, Imran Ozalp, Jeanne Hymes

Журнал:

The American Journal of Human Genetics

Рік:

1998

Мова:

english

Файл:

PDF, 35 KB

english, 1998

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

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

Журнал:

Рік:

2004

Мова:

english

Файл:

PDF, 473 KB

english, 2004

Nonketotic hyperglycinemia

Regula Baumgartner, Toshiyuki Ando, William L. Nyhan

Журнал:

E. REGULA BAUMGARTNER, TERTTU SUORMALA, HUGO WICK, JOCHEN BAUSCH, JEAN-PIERRE BONJOUR

Рік:

1969

Мова:

english

Файл:

PDF, 663 KB

english, 1969

Biotinidase Deficiency Associated with Renal Loss of Biocytin and Biotin

Журнал:

Annals of the New York Academy of Sciences

Рік:

1985

Мова:

english

Файл:

PDF, 758 KB

english, 1985

Feasibility of prenatal diagnosis of nonketotic hyperglycinemia: Existence of the glycine cleavage system in placenta

Kiyoshi Hayasaka, Keiya Tada, Noboru Fueki, Iku Takahashi, Akira Igarashi, Toshifumi Takabayashi, Regula Baumgartner

Журнал:

Cohen, Sanford N., Baumgartner, Regula, Steinberg, Michael S., Weber, Wendell W.

Рік:

1987

Мова:

english

Файл:

PDF, 253 KB

english, 1987

Changes in the physicochemical characteristics of rabbit liver N-acetyltransferase during post-natal development

Журнал:

Biochimica et Biophysica Acta (BBA) - General Subjects

Рік:

1973

Мова:

english

Файл:

PDF, 505 KB

english, 1973

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

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

Журнал:

Regula Baumgartner, E, Suormala, Terttu M, Wick, Hugo, Probst, Alphonse, Blauenstein, Ursula, Bachmann, Claude, Vest, Markus

Рік:

2007

Мова:

english

Файл:

PDF, 308 KB

english, 2007

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

Журнал:

Schlotawa, Lars, Radhakrishnan, Karthikeyan, Baumgartner, Matthias, Schmid, Regula, Schmidt, Bernhard, Dierks, Thomas, Gärtner, Jutta

Рік:

1989

Мова:

english

Файл:

PDF, 807 KB

english, 1989

Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency

Журнал:

European Journal of Human Genetics

Рік:

2013

Мова:

english

Файл:

PDF, 430 KB

english, 2013

Acute Neonatal Nonketotic Hyperglycinemia: Normal Propionate and Methylmalonate Metabolism

Baumgartner, E Regula, Bachmann, Claude, Brechbühler, Toni, Wick, Hugo

Журнал:

Maj, Mary C., MacKay, Neviana, Levandovskiy, Valeriy, Addis, Jane, Baumgartner, E. Regula, Baumgartner, Matthias R., Robinson, Brian H., Cameron, Jessie M.

Рік:

1975

Мова:

english

Файл:

PDF, 490 KB

english, 1975

Pyruvate Dehydrogenase Phosphatase Deficiency: Identification of the First Mutation in Two Brothers and Restoration of Activity by Protein Complementation

Журнал:

Journal of Clinical Endocrinology & Metabolism

Рік:

2005

Мова:

english

Файл:

PDF, 291 KB

english, 2005

Accumulation of Odd-Numbered Long-Chain Fatty Acids in Fetuses and Neonates with Inherited Disorders of Propionate Metabolism

Wendel, Udo, Baumgartner, Regula, Van Der Meer, Syb B, Spaapen, Leo J M

Журнал: