المؤلفون: Møller, Lisbeth Birk, Lenartowicz, Malgorzata, Zabot, Marie-Therese, Josiane, Arnaud, Burglen, Lydie, Bennett, Chris, Riconda, Daniel, Fisher, Richard, Janssens, Sandra, Mohammed, Shehla, Ausems, Margreet, Tümer, Zeynep, Horn, Nina, Jensen, Thomas G.

المصدر: Møller , L B , Lenartowicz , M , Zabot , M-T , Josiane , A , Burglen , L , Bennett , C , Riconda , D , Fisher , R , Janssens , S , Mohammed , S , Ausems , M , Tümer , Z , Horn , N & Jensen , T G 2012 , ' Clinical expression of Menkes disease in females with normal karyotype ' , Orphanet Journal of Rare Diseases , vol. 7 , pp. 6 . https://doi.org/10.1186/1750-1172-7-6Test

مصطلحات موضوعية: Adenosine Triphosphatases, Cation Transport Proteins, Chromosomes, Human, Copper, Female, Gene Expression Regulation, Humans, Karyotype, Male, Menkes Kinky Hair Syndrome, Mutation, Phenotype

الإتاحة: https://doi.org/10.1186/1750-1172-7-6Test
https://pure.au.dk/portal/da/publications/clinical-expression-ofTest-menkes-disease-in-females-with-normal-karyotype(74bb4068-8e28-4faf-96ce-b68986288841).html

المؤلفون: Møller, Lisbeth Birk, Lenartowicz, Malgorzata, Zabot, Marie-Therese, Josiane, Arnaud, Burglen, Lydie, Bennett, Chris, Riconda, Daniel, Fisher, Richard, Janssens, Sandra, Mohammed, Shehla, Ausems, Margreet, Tümer, Zeynep, Horn, Nina, Jensen, Thomas G.

المصدر: Møller , L B , Lenartowicz , M , Zabot , M-T , Josiane , A , Burglen , L , Bennett , C , Riconda , D , Fisher , R , Janssens , S , Mohammed , S , Ausems , M , Tümer , Z , Horn , N & Jensen , T G 2012 , ' Clinical expression of Menkes disease in females with normal karyotype ' , Orphanet Journal of Rare Diseases , vol. 7 , pp. 6 . https://doi.org/10.1186/1750-1172-7-6Test

مصطلحات موضوعية: Adenosine Triphosphatases, Cation Transport Proteins, Chromosomes, Human, Copper, Female, Gene Expression Regulation, Humans, Karyotype, Male, Menkes Kinky Hair Syndrome, Mutation, Phenotype

الإتاحة: https://doi.org/10.1186/1750-1172-7-6Test
https://curis.ku.dk/portal/da/publications/clinical-expression-ofTest-menkes-disease-in-females-with-normal-karyotype(fba775a6-3379-42c2-b17c-9191ce35378b).html

المؤلفون: Gourdon, Pontus, Liu, Xiang-Yu, Skjørringe, Tina, Morth, J Preben, Møller, Lisbeth Birk, Pedersen, Bjørn Panyella, Nissen, Poul

المصدر: Gourdon , P , Liu , X-Y , Skjørringe , T , Morth , J P , Møller , L B , Pedersen , B P & Nissen , P 2011 , ' Crystal structure of a copper-transporting PIB-type ATPase ' , Nature , vol. 475 , no. 7354 , pp. 59-64 . https://doi.org/10.1038/nature10191Test

مصطلحات موضوعية: Adenosine Triphosphatases, Bacterial Proteins, Binding Sites, Biological Transport, Calcium, Cation Transport Proteins, Cell Membrane, Copper, Crystallography, X-Ray, Cytoplasm, Hepatolenticular Degeneration, Humans, Legionella pneumophila, Menkes Kinky Hair Syndrome, Models, Molecular, Mutation, Missense, Protein Structure, Tertiary, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Structure-Activity Relationship

الإتاحة: https://doi.org/10.1038/nature10191Test
https://pure.au.dk/portal/da/publications/crystal-structure-of-a-coppertransporting-pibtype-atpaseTest(4ea68d9d-1510-411e-a1d0-7c0df78347fa).html

المؤلفون: Gourdon, Pontus Emanuel, Liu, Xiang-Yu, Skjørringe, Tina, Morth, J Preben, Møller, Lisbeth Birk, Pedersen, Bjørn Panyella, Nissen, Poul

المصدر: Gourdon , P E , Liu , X-Y , Skjørringe , T , Morth , J P , Møller , L B , Pedersen , B P & Nissen , P 2011 , ' Crystal structure of a copper-transporting PIB-type ATPase ' , Nature , vol. 475 , no. 7354 , pp. 59-64 . https://doi.org/10.1038/nature10191Test

مصطلحات موضوعية: Adenosine Triphosphatases, Bacterial Proteins, Binding Sites, Biological Transport, Calcium, Cation Transport Proteins, Cell Membrane, Copper, Crystallography, X-Ray, Cytoplasm, Hepatolenticular Degeneration, Humans, Legionella pneumophila, Menkes Kinky Hair Syndrome, Models, Molecular, Mutation, Missense, Protein Structure, Tertiary, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Structure-Activity Relationship

الإتاحة: https://doi.org/10.1038/nature10191Test
https://curis.ku.dk/portal/da/publications/crystal-structure-of-a-coppertransporting-pibtype-atpaseTest(364c5da4-bed2-4378-9769-203884f30a44).html

المؤلفون: Tümer, Zeynep, Klomp, Leo

المصدر: Tümer , Z & Klomp , L 2011 , ' Clinical utility gene card for: Menkes disease ' , European Journal of Human Genetics , vol. 19 , no. 10 . https://doi.org/10.1038/ejhg.2011.56Test

مصطلحات موضوعية: Adenosine Triphosphatases, Cation Transport Proteins, Copper, Female, Genetic Diseases, X-Linked, Genetic Testing, Heterozygote Detection, Humans, Infant, Male, Menkes Kinky Hair Syndrome, Mutation, Sensitivity and Specificity

الإتاحة: https://doi.org/10.1038/ejhg.2011.56Test
https://curis.ku.dk/portal/da/publications/clinical-utility-gene-card-forTest-menkes-disease(a4e33724-0321-4af5-b99e-a33cb06e7b32).html

المؤلفون: Jensen, P Y, Bonander, N, Karlsson, B G, Horn, N, Tümer, Z, Farver, O

المصدر: Jensen , P Y , Bonander , N , Karlsson , B G , Horn , N , Tümer , Z & Farver , O 1998 , ' Investigation of the copper binding sites in the Menkes disease protein, ATP7A. SSIEM Award. Society of the Study of Inborn Errors of Metabolism ' , Journal of Inherited Metabolic Disease , vol. 21 , no. 3 , pp. 195-8 .

مصطلحات موضوعية: Adenosine Triphosphatases, Amino Acid Sequence, Awards and Prizes, Binding Sites, Carrier Proteins, Cation Transport Proteins, Circular Dichroism, Copper, Humans, Menkes Kinky Hair Syndrome, Molecular Sequence Data, Nuclear Magnetic Resonance, Biomolecular, Protein Structure, Secondary, Recombinant Fusion Proteins, Societies, Medical

الإتاحة: https://curis.ku.dk/portal/da/publications/investigation-of-the-copper-binding-sites-in-theTest-menkes-disease-protein-atp7a-ssiem-award-society-of-the-study-of-inborn-errors-of-metabolism(c1a2dd76-f94d-44cc-85d1-6cf7b2f1617d).html