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- 2024
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Mark
Comment on Ombashi, van der Goes, Versnel, Khonsari, van der Molen: guidance to develop a multidisciplinary, international, pediatric registry: a systematic review, Orphanet Journal of Rare diseases, 2023
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
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- Contribution to journal › Article
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Mark
Needs of amyloidosis patients and their care providers : design & first results of the AMY-NEEDS research and care program
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- Contribution to journal › Article
- 2023
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Mark
Schooling experiences in children with long-gap esophageal atresia compared with children with esophageal atresia and primary anastomosis : a Swedish study
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- Contribution to journal › Article
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Mark
Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective
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- Contribution to journal › Letter
- 2022
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Mark
Postoperative morbidity and health-related quality of life in children with delayed reconstruction of esophageal atresia : a nationwide Swedish study
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- Contribution to journal › Article
- 2020
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Mark
Cross-cutting view of current challenges in paediatric solid organ and haematopoietic stem cell transplantation in Europe : The European Reference Network TransplantChild
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- Contribution to journal › Article
- 2019
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Mark
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; A consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability
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- Contribution to journal › Article
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Mark
Recommendations for patient screening in ultra-rare inherited metabolic diseases : What have we learned from Niemann-Pick disease type C?
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- Contribution to journal › Scientific review
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Mark
Arabidopsis thaliana alternative dehydrogenases : A potential therapy for mitochondrial complex i deficiency? Perspectives and pitfalls
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- Contribution to journal › Article
- 2018
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Mark
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
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- Contribution to journal › Article
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Mark
TSC-associated neuropsychiatric disorders (TAND) : findings from the TOSCA natural history study
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- Contribution to journal › Article
- 2017
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Mark
Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
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- Contribution to journal › Article
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Mark
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : An observational prospective open-label study
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- Contribution to journal › Article
- 2016
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Mark
Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and CD45RA+ depleted donor lymphocyte infusions.
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- Contribution to journal › Article
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Mark
Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate
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- Contribution to journal › Article
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Mark
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
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- Contribution to journal › Article
- 2015
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Mark
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C : an observational cohort study
(
- Contribution to journal › Article
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Mark
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
(
- Contribution to journal › Article
- 2014
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Mark
Rare inborn errors of metabolism with movement disorders : a case study to evaluate the impact upon quality of life and adaptive functioning
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- Contribution to journal › Article
- 2013
-
Mark
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome
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- Contribution to journal › Article
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Mark
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
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- Contribution to journal › Article
- 2012
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Mark
Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management
(
- Contribution to journal › Scientific review