60 results on '"Janssen, Mirian C. H."'
Search Results
2. Isolated Mitochondrial Complex Deficiencies
3. Increased prevalence of Parkinson's disease in alkaptonuria
4. Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study
5. Cognitive functioning and mental health in children with a primary mitochondrial disease
6. Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways
7. Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant
8. A conceptual disease model for quality of life in mitochondrial disease
9. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
10. Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation
11. Congenital Disorders of Glycosylation
12. Coenzyme Q10 Deficiency
13. Disorders of Mitochondrial Energy Metabolism
14. Pyruvate Dehydrogenase Complex Deficiency
15. Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening
16. Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency
17. Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers
18. Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
19. Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study
20. Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
21. Inheritance of the m.3243A>G mutation
22. One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation
23. A predictive model for estimating the number of erythrocytapheresis or phlebotomy treatments for patients with naïve hereditary hemochromatosis
24. Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation
25. Response to Energy Requirements in m.3243A>G Carriers Depend on Multiple Factors
26. Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
27. Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA
28. Psychological functioning in children suspected for mitochondrial disease: the need for care
29. Association of Body Composition, Physical Functioning, and Protein Intake in Adult Patients With Mitochondrial Diseases
30. Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
31. The 1‐ 13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes
32. Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers
33. Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature
34. Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
35. Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation
36. Fear of disease progression in carriers of the m.3243A > G mutation
37. The need for additional care in patients with classical galactosaemia
38. Quantification of gait in children with mitochondrial disease
39. Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
40. Patients With Mitochondrial Disease Have an Inadequate Nutritional Intake
41. Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study
42. Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study
43. Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.
44. International Paediatric Mitochondrial Disease Scale
45. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study
46. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders
47. New gout test: enhanced ex vivo cytokine production from PBMCS in common gout patients and a gout patient with Kearns-Sayre syndrome
48. Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients
49. Erratum: Symptomatic lipid storage in carriers for the PNPLA2 gene
50. Symptomatic lipid storage in carriers for the PNPLA2 gene
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