Familias GA | Greenberg C. R.

021-P More than one GCDH mutation causes GA1 in canadian aboriginal genetic isolate 2007

More than one GCDH mutation causes GA1 ina Canadian aboriginal genetic isolate 2007 pag 6...

07 abril, 2023 / 0 Comentario

021-P More than one GCDH mutation causes GA! ina a canadian aboriginal genetic isolate 2007

GA1 a report of 8 cases 2007 pag 38...

04 marzo, 2023 / 0 Comentario

137-0 INTERNATIONAL CROSS-SECTIONAL STUDY ON OUTCOME AND THERAPEUTIC EFFICACY IN GLUTARIC ACIDURIA TYPE I (GA-I) 2004

137-0 INTERNATIONAL CROSS-SECTIONAL STUDY ON OUTCOME AND THERAPEUTIC EFFICACY IN GLUTARIC ACIDURIA TYPE I (GA-I) Kolker S, Greenberg CR, Leonard JV, Saudubray JM, Kalkanoglu HS, Walter JH, Lagler F, Schwahn B, Troncoso M, Chalmers RA, Lund A, Koeller D, Burlina A, Wajner M, Christensen E, Zschocke...

08 octubre, 2022 / 0 Comentario

Outcome of the First 3-Years of a DNA-Based Neonatal Screening Program for Glutaric Acidemia Type 1 in Manitoba and Northwestern Ontario, Canada 2002

Outcome of the First 3-Years of a DNA-Based Neonatal Screening Program for Glutaric Acidemia Type 1 in Manitoba and Northwestern Ontario, Canada 2002...

30 julio, 2019 / 0 Comentario

G-to-T transversion at the 15 position of intron 1 in the glutaryl-CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I 1995

G-to-T transversion at the 15 position of intron 1 in the glutaryl-CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I 1995...

23 julio, 2019 / 0 Comentario

Emergency treatment in glutaryl‐CoA dehydrogenase deficiency 2004

Emergency treatment in glutaryl‐CoA dehydrogenase deficiency...

27 abril, 2019 / 0 Comentario

Assignment of Human Glutaryl-CoA Dehydrogenase Gene (GCDH) to the Short Arm of Chromosome 19 (19p13.2) by in Situ Hybridization and Somatic Cell Hybrid Analysis 1994

Assignment of Human Glutaryl-CoA Dehydrogenase Gene (GCDH) to the Short Arm of Chromosome 19 (19p13.2) by in Situ Hybridization and Somatic Cell Hybrid Analysis 1994...

10 diciembre, 2018 / 0 Comentario

A G-to-T transversion at the +5 position of intron 1 in the glutaryl-CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I 1995

A G-to-T transversion at the +5 position of intron 1 in the glutaryl-CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I 1995...

05 diciembre, 2018 / 0 Comentario

Greenberg C. R. Tag