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Search Results - Fitzky, B U
Search Results - Fitzky, B U
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Genetic Defects in Postsqualene Cholesterol Biosynthesis
by
Moebius, Fabian F.
,
Fitzky, Barbara U.
,
Glossmann, Hartmut
Published in
Trends in Endocrinology & Metabolism
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Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome
by
Witsch-Baumgartner, M.
,
Fitzky, B.U.
,
Ogorelkova, M.
,
Kraft, H.G.
,
Moebius, F.F.
,
Glossmann, H.
,
Seedorf, U.
,
Gillessen-Kaesbach, G.
,
Hoffmann, G.F.
,
Clayton, P.
,
Kelley, R.I.
,
Utermann, G.
Published in
American journal of human genetics
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7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome
by
Fitzky, B U
,
Moebius, F F
,
Asaoka, H
,
Waage-Baudet, H
,
Xu, L
,
Xu, G
,
Maeda, N
,
Kluckman, K
,
Hiller, S
,
Yu, H
,
Batta, A K
,
Shefer, S
,
Chen, T
,
Salen, G
,
Sulik, K
,
Simoni, R D
,
Ness, G C
,
Glossmann, H
,
Patel, S B
,
Tint, G S
Published in
The Journal of clinical investigation
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Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smit...
by
Bae, S H
,
Lee, J N
,
Fitzky, B U
,
Seong, J
,
Paik, Y K
Published in
The Journal of biological chemistry
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Mutations in the Δ 7-sterol Reductase Gene in Patients with the Smith--Lemli--Opitz Syndrome
by
Fitzky, Barbara U.
,
Witsch-Baumgartner, Martina
,
Erdel, Martin
,
Lee, Joon No
,
Paik, Young-Ki
,
Glossmann, Hartmut
,
Utermann, Gerd
,
Moebius, Fabian F.
Published in
Proceedings of the National Academy of Sciences - PNAS
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Molecular Cloning and Expression of the Human Δ 7-sterol Reductase
by
Moebius, Fabian F.
,
Fitzky, Barbara U.
,
Lee, Joon No
,
Paik, Young-Ki
,
Glossmann, Hartmut
Published in
Proceedings of the National Academy of Sciences - PNAS
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7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome
by
Fitzky, Barbara U.
,
Moebius, Fabian F.
,
Asaoka, Hitoshi
,
Waage-Baudet, Heather
,
Xu, Liwen
,
Xu, Guorong
,
Maeda, Nobuyo
,
Kluckman, Kimberly
,
Hiller, Sylvia
,
Yu, Hongwei
,
Batta, Ashok K.
,
Shefer, Sarah
,
Chen, Thomas
,
Salen, Gerald
,
Sulik, Kathleen
,
Simoni, Robert D.
,
Ness, Gene C.
,
Glossmann, Hartmut
,
Patel, Shailendra B.
,
Tint, G.S.
Published in
The Journal of clinical investigation
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Molecular cloning and expression of the human delta7-sterol reductase
by
Moebius, F F
,
Fitzky, B U
,
Lee, J N
,
Paik, Y K
,
Glossmann, H
Published in
Proceedings of the National Academy of Sciences - PNAS
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Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
by
Fitzky, B U
,
Witsch-Baumgartner, M
,
Erdel, M
,
Lee, J N
,
Paik, Y K
,
Glossmann, H
,
Utermann, G
,
Moebius, F F
Published in
Proceedings of the National Academy of Sciences - PNAS
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10
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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
by
Witsch-Baumgartner, M
,
Fitzky, B U
,
Ogorelkova, M
,
Kraft, H G
,
Moebius, F F
,
Glossmann, H
,
Seedorf, U
,
Gillessen-Kaesbach, G
,
Hoffmann, G F
,
Clayton, P
,
Kelley, R I
,
Utermann, G
Published in
American journal of human genetics
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Article
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Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smit...
Published in
The Journal of biological chemistry
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ErratumGenetic Defects in Postsqualene Cholesterol Biosynthesis
by
Moebius, FF
,
Fitzky, BU
,
Glossmann, H
Published in
Trends in endocrinology and metabolism
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Proceedings Of The National Academy Of Sciences - Pnas
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American Journal Of Human Genetics
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Science & Technology
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Humans
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Oxidoreductases - Genetics
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Smith-Lemli-Opitz Syndrome - Genetics
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Animals
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Oxidoreductases Acting On Ch-Ch Group Donors
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Amino Acid Sequence
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Molecular Sequence Data
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Smith-Lemli-Opitz Syndrome - Enzymology
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Base Sequence
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Biochemistry & Molecular Biology
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Biological And Medical Sciences
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Cholesterol
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Cholesterol - Biosynthesis
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Cholesterols
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Chromosome Mapping
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