檢索結果 - Anna Wedell

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  1. 1
    Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency 由 Henrik Falhammar, Helena Filipsson Nyström, Anna Wedell, Marja Thorén

    出版 2010
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  2. 2
    Genotyping Is a Valuable Diagnostic Complement to Neonatal Screening for Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency<sup>1</sup>

    Genotyping Is a Valuable Diagnostic Complement to Neonatal Screening for Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency<sup>1</sup> 由 Anna Nordenström, Astrid Thilén, Lars Hagenfeldt, Agne Larsson, Anna Wedell

    出版 1999
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  3. 3
    Molecular Model of Human CYP21 Based on Mammalian CYP2C5: Structural Features Correlate with Clinical Severity of Mutations Causing Congenital Adrenal Hyperplasia

    Molecular Model of Human CYP21 Based on Mammalian CYP2C5: Structural Features Correlate with Clinical Severity of Mutations Causing Congenital Adrenal Hyperplasia 由 Tiina Robins, Jonas Carlsson, Maria Sunnerhagen, Anna Wedell, Bengt Persson

    出版 2006
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  4. 4
    Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

    Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. 由 Anna Wedell, E. Martin Ritzén, B Haglund-Stengler, Holger Luthman

    出版 1992
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  5. 5
    Prenatal Dexamethasone Treatment of Children at Risk for Congenital Adrenal Hyperplasia: The Swedish Experience and Standpoint

    Prenatal Dexamethasone Treatment of Children at Risk for Congenital Adrenal Hyperplasia: The Swedish Experience and Standpoint 由 Tatja Hirvikoski, Anna Nordenström, Anna Wedell, Martin Ritzén, Svetlana Lajić

    出版 2012
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  6. 6
    Long-Term Somatic Follow-Up of Prenatally Treated Children with Congenital Adrenal Hyperplasia1

    Long-Term Somatic Follow-Up of Prenatally Treated Children with Congenital Adrenal Hyperplasia1 由 Svetlana Lajić, Anna Wedell, The‐Hung Bui, E. Martin Ritzén, Mikael Holst

    出版 1998
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  7. 7
    Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia

    Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia 由 Henrik Falhammar, Helena Filipsson Nyström, Anna Wedell, Kerstin Brismar, Marja Thorén

    出版 2012
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  8. 8
    Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

    Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia 由 Henrik Falhammar, Helena Filipsson Nyström, Urban Ekström, S. Granberg, Anna Wedell, Marja Thorén

    出版 2011
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  9. 9
    Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the<i>DAX1</i>Gene

    Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the<i>DAX1</i>Gene 由 Michela Barbaro, Mikael Oscarson, Jacqueline Schoumans, Johan Staaf, Sten A. Ivarsson, Anna Wedell

    出版 2007
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  10. 10
    The ketogenic diet compensates for<scp>AGC</scp>1 deficiency and improves myelination

    The ketogenic diet compensates for<scp>AGC</scp>1 deficiency and improves myelination 由 Maria Dahlin, Daniel Martín Muñoz, Zandra Hedlund, Monica Jönsson, Ulrika von Döbeln, Anna Wedell

    出版 2015
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  11. 11
    Cognitive Functions in Children at Risk for Congenital Adrenal Hyperplasia Treated Prenatally with Dexamethasone

    Cognitive Functions in Children at Risk for Congenital Adrenal Hyperplasia Treated Prenatally with Dexamethasone 由 Tatja Hirvikoski, Anna Nordenström, Torun Lindholm, Frank Lindblad, E. Martin Ritzén, Anna Wedell, Svetlana Lajić

    出版 2006
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  12. 12
    Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform

    Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hyb... 由 Ameli Norling, Angelica Lindén Hirschberg, Kenny A. Rodriguez‐Wallberg, Erik Iwarsson, Anna Wedell, Michela Barbaro

    出版 2014
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  13. 13
    Human In Vitro Models of Neuroenergetics and Neurometabolic Disturbances: Current Advances and Clinical Perspectives

    Human In Vitro Models of Neuroenergetics and Neurometabolic Disturbances: Current Advances and Clinical Perspectives 由 Julia Rogal, Laura N. Zamproni, Polyxeni Nikolakopoulou, Sofia Ygberg, Anna Wedell, Anna Wredenberg, Anna Herland

    出版 2024
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  14. 14
    Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study

    Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study 由 Tommy Stödberg, Torbjörn Tomson, Michela Barbaro, Henrik Stranneheim, Britt‐Marie Anderlid, Sofia Carlsson, Per Åmark, Anna Wedell

    出版 2020
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  15. 15
    Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden

    Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden 由 Anna Strandqvist, Henrik Falhammar, Paul Lichtenstein, Angelica Lindén Hirschberg, Anna Wedell, Christina Norrby, Agneta Nordenskjöld, Louise Frisén, Anna Nordenström

    出版 2014
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  16. 16
    Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation

    Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation 由 Ana Bratić, Paula Clemente, Javier Calvo‐Garrido, Camilla Maffezzini, Andrea Felser, Rolf Wibom, Anna Wedell, Christoph Freyer, Anna Wredenberg

    出版 2016
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  17. 17
    Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

    Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA 由 Michela Barbaro, Antonio Balsamo, Britt Marie Anderlid, Anne Grethe Myhre, Monia Gennari, Annalisa Nicoletti, Maria Carla Pittalis, Mikael Oscarson, Anna Wedell

    出版 2009
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  18. 18
    RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis

    RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis 由 Uwe Richter, Molly Evans, Wesley C. Clark, Paula Marttinen, Eric A. Shoubridge, Anu Suomalainen, Anna Wredenberg, Anna Wedell, Tao Pan, Brendan J. Battersby

    出版 2018
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  19. 19
    AGC1 Deficiency Associated with Global Cerebral Hypomyelination

    AGC1 Deficiency Associated with Global Cerebral Hypomyelination 由 Rolf Wibom, Francesco M. Lasorsa, Virpi Töhönen, Michela Barbaro, Fredrik Sterky, Thomas Kucinski, K Naess, Monica Jönsson, Ciro Leonardo Pierri, Ferdinando Palmieri, Anna Wedell

    出版 2009
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  20. 20
    <scp>FBXL</scp> 4 deficiency increases mitochondrial removal by autophagy

    <scp>FBXL</scp> 4 deficiency increases mitochondrial removal by autophagy 由 David Alsina, Oleksandr Lytovchenko, Aleksandra Schab, Ilian Atanassov, F. Schober, Min Jiang, Camilla Koolmeister, Anna Wedell, Robert W. Taylor, Anna Wredenberg, Nils‐Göran Larsson

    出版 2020
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