IK
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Fatal cervical myelopathy in a child with glutaric aciduria type 1 | Journal of inherited metabolic disease |  | 2024 | 13 | 28 | ||
| Maladies innées du métabolisme : un domaine pionnier de la médecine de précision | Revue médicale suisse | | 2023 | 75 | 133 | ||
| Plasma biomarkers for Alzheimer's disease: a field-test in a memory clinic | Journal of neurology, neurosurgery and psychiatry | | 2023 | 266 | 167 | ||
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | 2023 | 187 | 119 | ||
| Movement disorders in valine metabolism diseases caused by HIBCH and ECHS1 deficiencies | European journal of neurology |  | 2022 | 71 | 0 | ||
| Lipoprotein(a) levels are not independently associated with endogenous steroid hormone levels, in contrast to other non-genetic and genetic factors: the population-based SKIPOGH study | European heart journal | | 2021 | 240 | 0 | ||
| Abnormal results in common clinical laboratory assays: clues to diagnose rare inborn errors of metabolism? | | 2021 | 351 | 528 | |||
| Changes of lipoprotein(a) levels with endogenous steroid hormones | European journal of clinical investigation | | 2021 | 306 | 344 | ||
| Undiagnosed phenylketonuria can exist everywhere : results from an international survey | The Journal of pediatrics | | 2021 | 76 | 121 | ||
| Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency | Human Molecular Genetics | | 2020 | 413 | 1 | ||
| Prognostic value of elevated lipoprotein(a) in patients with acute coronary syndromes | European Journal of Clinical Investigation | | 2019 | 399 | 2 | ||
| Parkinsonism is a Phenotypical Signature of Amyloidopathy in Patients with Gait Disorders | Journal of Alzheimer's Disease | | 2018 | 548 | 1 | ||
| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | 2017 | 545 | 2 | ||
| L'interniste face aux maladies rares : quand y penser ? L'exemple des maladies mitochondriales | Revue médicale suisse | | 2017 | 455 | 1 | ||
| Fingerprinting of neurotoxic compounds using a mouse embryonic stem cell dual luminescence reporter assay | Archives of toxicology | | 2017 | 701 | 482 | ||
| Acute cortical deafness in a child with MELAS syndrome | Journal of Inherited Metabolic Disease | | 2016 | 540 | 163 | ||
| Erreurs innées du métabolisme: transition enfant-adulte | Revue médicale suisse | | 2015 | 616 | 2 | ||
| Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report | Neuropediatrics | | 2014 | 584 | 1 | ||
| Vitamin D deficiency: a forgotten treatable cause of motor delay and proximal myopathy | Brain & development | | 2014 | 687 | 0 | ||
| Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy | Orphanet journal of rare diseases | | 2014 | 685 | 418 | ||
| Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study | Pediatrics | | 2013 | 622 | 0 | ||
| Embryonic stem cell-based screen for small molecules: cluster analysis reveals four response patterns in developing neural cells | Current medicinal chemistry | 2013 | 724 | 0 | |||
| Nouvelles thérapies pour les maladies osseuses de l'enfant | Revue médicale suisse | | 2012 | 565 | 0 | ||
| Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy | Journal of medical genetics | | 2011 | 576 | 0 | ||
| TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum | Nature genetics | | 2011 | 569 | 1 | ||
| Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome | BMC neurology | | 2011 | 594 | 217 | ||
| Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency | Neurology | | 2010 | 705 | 0 | ||
| Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient | Journal of inherited metabolic disease | | 2008 | 499 | 0 | ||
| Epigénétique et cancer | Revue médicale suisse | | 2007 | 573 | 2 | ||
| Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria | European journal of pediatrics | | 2005 | 529 | 0 | ||
| Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency | Journal of medical genetics | | 2003 | 513 | 251 |
