442 results on '"Langendonk, Janneke"'
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2. High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia
3. Liver involvement in patients with erythropoietic protoporphyria
4. The effects of cholecalciferol and afamelanotide on vitamin D levels in erythropoietic protoporphyria: a multicentre cohort study.
5. Quality of life in children with erythropoietic protoporphyria: a case–control study.
6. MR imaging for the quantitative assessment of brain iron in aceruloplasminemia: A postmortem validation study
7. Social cognition, emotion-regulation and social competence in classical galactosemia patients without intellectual disability
8. Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability
9. The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
10. PB1998: AZACYTIDINE AND ALLOGENOUS STEM CELL TRANSPLANTATION IN LATE-ONSET ERYTHROPOIETIC PROTOPORPHYRIA
11. Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study
12. Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series
13. New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients
14. Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
15. Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports
16. Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
17. The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
18. Mucolipidosis type III, a series of adult patients
19. Medical and financial burden of acute intermittent porphyria
20. DESIGN OF A PHASE 3 STUDY OF AAV-MEDIATED GENE TRANSFER OF ORNITHINE TRANSCARBAMYLASE (OTC) IN PATIENTS WITH LATE-ONSET OTC DEFICIENCY
21. Newborn screening for primary carnitine deficiency:Who will benefit? - A retrospective cohort study
22. Erythropoietic protoporphyria in the Netherlands:Clinical features, psychosocial impact and the effect of afamelanotide
23. Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
24. Heme as an initial treatment for severe decompensation in tyrosinemia type 1
25. Erythropoietic protoporphyria in the Netherlands: Clinical features, psychosocial impact and the effect of afamelanotide
26. Mortality in Pedigrees with Acute Intermittent Porphyria
27. Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study
28. Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome
29. Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III : A systematic review
30. Correction to: Medical and financial burden of acute intermittent porphyria
31. Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network.
32. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study
33. Primary carnitine deficiency is a life‐long disease
34. Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores
35. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
36. Prognostic significance of hyperammonemia in neuroendocrine neoplasm patients with liver metastases
37. Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores
38. Mortality in Pedigrees with Acute Intermittent Porphyria
39. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria:A comparison between two genetic disorders affecting the same metabolic pathway
40. Integration of metabolomics with genomics:Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores
41. Primary carnitine deficiency is a life-long disease
42. Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III:A systematic review
43. Off-resonance saturation as an MRI method to quantify mineral- iron in the post-mortem brain
44. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
45. Insufficient Evidence of Cimetidine Benefit in Protoporphyria
46. Erythropoietic protoporphyria in the Netherlands: Clinical features, psychosocial impact and the effect of afamelanotide.
47. Failing beta-cell adaptation in South Asian families with a high risk of type 2 diabetes
48. Givosiran Likely Inhibits Cytochrome P450 More Substantially Than Reported
49. Objective light exposure measurements and circadian rhythm in patients with erythropoietic protoporphyria: A case-control study
50. Porphyrias
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