49 results on '"Lunsing, Roelineke J"'
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2. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
3. Melatonin in neuropaediatric MRI: a retrospective study of efficacy in a general hospital setting
4. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
5. Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
6. Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders
7. Eye movement disorders in inborn errors of metabolism – a quantitative analysis of 37 patients
8. Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
9. Reliability of phenotypic early-onset ataxia assessment: a pilot study
10. Assessment of speech in early-onset ataxia: a pilot study
11. Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
12. Quantitative multivoxel 1H MR spectroscopy of the brain in children with acute liver failure
13. Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy
14. Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation
15. Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
16. Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations
17. 1H Magnetic Resonance Spectroscopy in Monocarboxylate Transporter 8 Gene Deficiency
18. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)
19. Paediatric motor phenotypes in early‐onset ataxia, developmental coordination disorder, and central hypotonia
20. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
21. Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI
22. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
23. Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.
24. The neurological phenotype of developmental motor patterns during early childhood
25. Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI
26. Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia
27. Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
28. Reliability and discriminant validity of ataxia rating scales in early onset ataxia
29. Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders
30. The Burke-Fahn-Marsden Dystonia Rating Scale is Age-Dependent in Healthy Children
31. Infants with Tyrosinemia Type 1:Should phenylalanine be supplemented?
32. Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.
33. Reliability of phenotypic early-onset ataxia assessment: a pilot study
34. Reliability and discriminant validity of ataxia rating scales in early onset ataxia.
35. Subtle bilirubin-induced neurodevelopmental dysfunction (BIND) in the term and late preterm infant: Does it exist?
36. Neonatal seizures: Aetiology by means of a standardized work-up
37. Favorable Outcome in a Newborn With Molybdenum Cofactor Type A Deficiency Treated With cPMP
38. Neurodevelopment after moderate hyperbilirubinemia at term
39. Favorable Outcome in a Newborn With Molybdenum Cofactor Type A Deficiency Treated With cPMP
40. Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay
41. Successful treatment of a guanidinoacetate methyltransferase deficient patient: Findings with relevance to treatment strategy and pathophysiology
42. Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation
43. Clinical and biochemical spectrum of D-bifunctional protein deficiency
44. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
45. NUBPLmutations in patients with complex I deficiency and a distinct MRI pattern
46. Clinical and biochemical spectrum of D‐bifunctional protein deficiency
47. The neurological phenotype of developmental motor patterns during early childhood.
48. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
49. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
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