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Molecular Genetics and Metabolism
|
October 16, 2012
Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders
Julia B Hennermann, Sylvia Roloff, Christine Gebauer, et al.
Orphanet Journal of Rare Diseases
|
November 16, 2019
A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades
Susanne Hopf, Norbert Pfeiffer, Matthias Liesenfeld, et al.
Orphanet Journal of Rare Diseases
|
July 23, 2022
Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature
Julia B Hennermann, Eva M Raebel, Francesca Donà, et al.
European Journal of Pediatrics
|
December 11, 2008
Neonatal manifestation of multiple sulfatase deficiency
Andreas Busche, Julia B Hennermann, Friederike Bürger, et al.
European Journal of Radiology
|
July 3, 2017
Vessel shape alterations of the vertebrobasilar arteries in Mucopolysaccharidosis type IVa (Morquio A) patients
Yasemin Tanyildizi, Seyfullah Gökce, Federico Marini, et al.
Journal of Child Neurology
|
July 22, 2011
Timing of cerebral developmental disruption in molybdenum cofactor deficiency
Alex Veldman, Julia B Hennermann, Guenter Schwarz, et al.
Journal of Neurology
|
March 22, 2021
Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis
Hans Thomas Hölzer, Felix Boschann, Julia B Hennermann, et al.
Journal of Neuromuscular Diseases
|
December 3, 2023
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
Charlotte Pfrimmer, Martin Smitka, Nicole Muschol, et al.
Molecular Genetics and Metabolism
|
April 5, 2020
Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with clinical data and markers of disease severity
André Lollert, Christian Hoffmann, Michael Lache, et al.
Plos One
|
September 10, 2016
Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
Christoph Kampmann, Tariq Abu-Tair, Seyfullah Gökce, et al.
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of 10
Search research articles
Search
Showing results (21-30 of 97) with videos related to
Sort By:
Page
of 10
Molecular Genetics and Metabolism
|
October 16, 2012
Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders
Julia B Hennermann, Sylvia Roloff, Christine Gebauer, et al.
Orphanet Journal of Rare Diseases
|
November 16, 2019
A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades
Susanne Hopf, Norbert Pfeiffer, Matthias Liesenfeld, et al.
Orphanet Journal of Rare Diseases
|
July 23, 2022
Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature
Julia B Hennermann, Eva M Raebel, Francesca Donà, et al.
European Journal of Pediatrics
|
December 11, 2008
Neonatal manifestation of multiple sulfatase deficiency
Andreas Busche, Julia B Hennermann, Friederike Bürger, et al.
European Journal of Radiology
|
July 3, 2017
Vessel shape alterations of the vertebrobasilar arteries in Mucopolysaccharidosis type IVa (Morquio A) patients
Yasemin Tanyildizi, Seyfullah Gökce, Federico Marini, et al.
Journal of Child Neurology
|
July 22, 2011
Timing of cerebral developmental disruption in molybdenum cofactor deficiency
Alex Veldman, Julia B Hennermann, Guenter Schwarz, et al.
Journal of Neurology
|
March 22, 2021
Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis
Hans Thomas Hölzer, Felix Boschann, Julia B Hennermann, et al.
Journal of Neuromuscular Diseases
|
December 3, 2023
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
Charlotte Pfrimmer, Martin Smitka, Nicole Muschol, et al.
Molecular Genetics and Metabolism
|
April 5, 2020
Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with clinical data and markers of disease severity
André Lollert, Christian Hoffmann, Michael Lache, et al.
Plos One
|
September 10, 2016
Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
Christoph Kampmann, Tariq Abu-Tair, Seyfullah Gökce, et al.
Page
of 10