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Pediatrics
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July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
Dietrich Matern, Miao He, Susan A Berry, et al.
Metabolism: Clinical and Experimental
|
November 9, 2024
Body weight control via protein kinase CK2: diet-induced obesity counteracted by pharmacological targeting
Laura M Buchwald, Ditte Neess, Daniel Hansen, et al.
JIMD Reports
|
February 23, 2013
Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain)
M L Couce, D E Castiñeiras, J D Moure, et al.
Bone Marrow Transplantation
|
January 25, 2011
Apheresis days required for harvesting CD34+ cells predicts hematopoietic recovery and survival following autologous transplantation
S Malik, B Bolwell, L Rybicki, et al.
Zeitschrift Fur Gastroenterologie
|
June 1, 1996
Rapid characterization of disease-causing mutations in the low density lipoprotein receptor (LDL-R) gene by overexpression in COS cells
T G Jensen, B S Andresen, H K Jensen, et al.
American Journal of Human Genetics
|
October 3, 2000
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism
B S Andresen, E Christensen, T J Corydon, et al.
Human Mutation
|
October 15, 2013
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency
Rikke K J Olsen, Sabrina Brøner, Rugivan Sabaratnam, et al.
Ugeskrift for Laeger
|
April 15, 2000
[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients]
C B Sørensen, A S Ladekjaer-Mikkelsen, B S Andresen, et al.
Bone Marrow Transplantation
|
August 20, 2008
400 cGy TBI with fludarabine for reduced-intensity conditioning allogeneic hematopoietic stem cell transplantation
R M Sobecks, R Dean, L A Rybicki, et al.
Bone Marrow Transplantation
|
August 12, 2014
Risk factors for vancomycin-resistant enterococcus bacteremia and its influence on survival after allogeneic hematopoietic cell transplantation
M Tavadze, L Rybicki, S Mossad, et al.
Page
of 23
Search research articles
Search
Showing results (181-190 of 227) with videos related to
Sort By:
Page
of 23
Pediatrics
|
July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
Dietrich Matern, Miao He, Susan A Berry, et al.
Metabolism: Clinical and Experimental
|
November 9, 2024
Body weight control via protein kinase CK2: diet-induced obesity counteracted by pharmacological targeting
Laura M Buchwald, Ditte Neess, Daniel Hansen, et al.
JIMD Reports
|
February 23, 2013
Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain)
M L Couce, D E Castiñeiras, J D Moure, et al.
Bone Marrow Transplantation
|
January 25, 2011
Apheresis days required for harvesting CD34+ cells predicts hematopoietic recovery and survival following autologous transplantation
S Malik, B Bolwell, L Rybicki, et al.
Zeitschrift Fur Gastroenterologie
|
June 1, 1996
Rapid characterization of disease-causing mutations in the low density lipoprotein receptor (LDL-R) gene by overexpression in COS cells
T G Jensen, B S Andresen, H K Jensen, et al.
American Journal of Human Genetics
|
October 3, 2000
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism
B S Andresen, E Christensen, T J Corydon, et al.
Human Mutation
|
October 15, 2013
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency
Rikke K J Olsen, Sabrina Brøner, Rugivan Sabaratnam, et al.
Ugeskrift for Laeger
|
April 15, 2000
[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients]
C B Sørensen, A S Ladekjaer-Mikkelsen, B S Andresen, et al.
Bone Marrow Transplantation
|
August 20, 2008
400 cGy TBI with fludarabine for reduced-intensity conditioning allogeneic hematopoietic stem cell transplantation
R M Sobecks, R Dean, L A Rybicki, et al.
Bone Marrow Transplantation
|
August 12, 2014
Risk factors for vancomycin-resistant enterococcus bacteremia and its influence on survival after allogeneic hematopoietic cell transplantation
M Tavadze, L Rybicki, S Mossad, et al.
Page
of 23