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T Marquardt

Showing results (41-50 of 59) with videos related to

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Molecular Genetics and Metabolism|September 28, 2013
Neurocognitive functioning in adults with phenylketonuria: results of a long term studyJ Weglage, J Fromm, A van Teeffelen-Heithoff, et al.
Journal of Inherited Metabolic Disease|September 14, 2002
Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patientsJ Weglage, M Grenzebach, A von Teeffelen-Heithoff, et al.
Pediatric Nephrology (Berlin, Germany)|June 29, 2000
Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiencyE Kuwertz-Bröking, H G Koch, T Marquardt, et al.
BMJ Open|November 24, 2012
Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: a retrospective cohort study of the Fabry Munster Study (FaMuS) dataMarkus A Engelen, Eva Brand, Timo B Baumeister, et al.
JIMD Reports|August 5, 2015
TMEM165 Deficiency: Postnatal Changes in GlycosylationS Schulte Althoff, M Grüneberg, J Reunert, et al.
Molecular Genetics and Metabolism|February 7, 2012
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare diseaseA E Würde, J Reunert, S Rust, et al.
Gene|October 26, 2013
ALG1-CDG: a new case with early fatal outcomeA-K Rohlfing, S Rust, J Reunert, et al.
The British Journal of Dermatology|May 4, 2019
Refining the dermatological spectrum in primary immunodeficiency: mucosa-associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromesH Wiegmann, J Reunert, D Metze, et al.
Journal of Inherited Metabolic Disease|March 18, 2015
A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approachK Dörre, M Olczak, Y Wada, et al.
Journal of Human Genetics|April 6, 2018
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardationJ Gödiker, M Grüneberg, I DuChesne, et al.
Pageof 6

Showing results (41-50 of 59) with videos related to

Sort By:
Pageof 6
Molecular Genetics and Metabolism|September 28, 2013
Neurocognitive functioning in adults with phenylketonuria: results of a long term studyJ Weglage, J Fromm, A van Teeffelen-Heithoff, et al.
Journal of Inherited Metabolic Disease|September 14, 2002
Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patientsJ Weglage, M Grenzebach, A von Teeffelen-Heithoff, et al.
Pediatric Nephrology (Berlin, Germany)|June 29, 2000
Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiencyE Kuwertz-Bröking, H G Koch, T Marquardt, et al.
BMJ Open|November 24, 2012
Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: a retrospective cohort study of the Fabry Munster Study (FaMuS) dataMarkus A Engelen, Eva Brand, Timo B Baumeister, et al.
JIMD Reports|August 5, 2015
TMEM165 Deficiency: Postnatal Changes in GlycosylationS Schulte Althoff, M Grüneberg, J Reunert, et al.
Molecular Genetics and Metabolism|February 7, 2012
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare diseaseA E Würde, J Reunert, S Rust, et al.
Gene|October 26, 2013
ALG1-CDG: a new case with early fatal outcomeA-K Rohlfing, S Rust, J Reunert, et al.
The British Journal of Dermatology|May 4, 2019
Refining the dermatological spectrum in primary immunodeficiency: mucosa-associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromesH Wiegmann, J Reunert, D Metze, et al.
Journal of Inherited Metabolic Disease|March 18, 2015
A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approachK Dörre, M Olczak, Y Wada, et al.
Journal of Human Genetics|April 6, 2018
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardationJ Gödiker, M Grüneberg, I DuChesne, et al.
Pageof 6