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Brain : a Journal of Neurology
|
May 26, 2021
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis
Pauline E Schneeberger, Sheela Nampoothiri, Tess Holling, et al.
Orphanet Journal of Rare Diseases
|
April 19, 2015
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)
Daniela Karall, Michaela Brunner-Krainz, Katharina Kogelnig, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|
December 28, 2010
Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study
Eduard Paschke, Guenter Fauler, Heimo Winkler, et al.
Metabolites
|
April 21, 2022
Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome
Martina Zandl-Lang, Thomas Züllig, Martin Trötzmüller, et al.
Neurology
|
July 31, 2015
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination
Heather C Mefford, Matthew Zemel, Eileen Geraghty, et al.
Journal of Neurology
|
February 4, 2025
Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients
Martina Zandl-Lang, Thomas Züllig, Michael Holzer, et al.
Pediatric Hematology and Oncology
|
August 14, 2014
Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome
Wolfgang Schwinger, Petra Sovinz, Martin Benesch, et al.
Children (Basel, Switzerland)
|
August 27, 2021
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines
Rudolf Korinthenberg, Regina Trollmann, Barbara Plecko, et al.
The Journal of Pediatrics
|
November 1, 2002
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts
Fredoen Valianpour, Ronald J A Wanders, Henk Overmars, et al.
Orphanet Journal of Rare Diseases
|
August 20, 2021
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria
Marion Herle, Michaela Brunner-Krainz, Daniela Karall, et al.
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Search research articles
Search
Showing results (41-50 of 113) with videos related to
Sort By:
Page
of 12
Brain : a Journal of Neurology
|
May 26, 2021
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis
Pauline E Schneeberger, Sheela Nampoothiri, Tess Holling, et al.
Orphanet Journal of Rare Diseases
|
April 19, 2015
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)
Daniela Karall, Michaela Brunner-Krainz, Katharina Kogelnig, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|
December 28, 2010
Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study
Eduard Paschke, Guenter Fauler, Heimo Winkler, et al.
Metabolites
|
April 21, 2022
Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome
Martina Zandl-Lang, Thomas Züllig, Martin Trötzmüller, et al.
Neurology
|
July 31, 2015
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination
Heather C Mefford, Matthew Zemel, Eileen Geraghty, et al.
Journal of Neurology
|
February 4, 2025
Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients
Martina Zandl-Lang, Thomas Züllig, Michael Holzer, et al.
Pediatric Hematology and Oncology
|
August 14, 2014
Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome
Wolfgang Schwinger, Petra Sovinz, Martin Benesch, et al.
Children (Basel, Switzerland)
|
August 27, 2021
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines
Rudolf Korinthenberg, Regina Trollmann, Barbara Plecko, et al.
The Journal of Pediatrics
|
November 1, 2002
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts
Fredoen Valianpour, Ronald J A Wanders, Henk Overmars, et al.
Orphanet Journal of Rare Diseases
|
August 20, 2021
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria
Marion Herle, Michaela Brunner-Krainz, Daniela Karall, et al.
Page
of 12