471 results on '"Poll‐The, B. T."'
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2. Peroxisomal Disorders
3. ‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes
4. Diagnostic work-up of a peroxisomal patient
5. Clinical approach to inherited peroxisomal disorders
6. Peroxisomal Disorders
7. Feedback learning and behavior problems after pediatric traumatic brain injury
8. Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study
9. Ataxia rating scales are age-dependent in healthy children
10. Hypoplastisch linkerhartsyndroom als uiting van een bijzondere vorm van de ziekte van Werdnig-Hoffmann
11. Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation
12. Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology
13. Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency
14. Een pasgeborene met een zeldzame oorzaak van cholestase: een peroxisomale ziekte
15. Galactosemie in Nederland, opnieuw beschouwd
16. The eye as a window to inborn errors of metabolism
17. Failure to thrive: denk ook aan een hersentumor
18. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids
19. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
20. Hyperketonaemia in glycerol kinase deficiency
21. Isolated and contiguous glycerol kinase gene disorders: A review
22. Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency
23. Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome
24. Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene
25. Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency
26. The success of dietary protein restriction in alkaptonuria patients is age-dependent
27. The metabolism of phytanic acid and pristanic acid in man: A review
28. Alterations of hepatic peroxisomes in tyrosinaemia type I: Return to fetal type?
29. The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency
30. Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
31. The unfolding clinical spectrum of POLG mutations
32. Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation
33. Abnormal glutathione conjugation in patients with tyrosinaemia type I
34. Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion
35. In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: Limited diagnostic use of 1-13C fatty acid breath test using bolus technique
36. Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism
37. Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship
38. Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: A diagnostic pitfall
39. Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance
40. Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine: Proceedings of meeting held at Dromoland Castle, Co. Clare on July 2nd–6th, 1995
41. A Homozygous Nonsense Mutation in the Methylmalonyl-CoA Epimerase Gene (MCEE) Results in Mild Methylmalonic Aciduria
42. Peroxisomal disorders: A review
43. Short Report: Plasma pipecolic acid is frequently elevated in non-peroxisomal disease
44. Peroxisomal disorders: Concentrations of metabolites in cerebrospinal fluid compared with plasma
45. Cerebrospinal fluid organic acids in biotinidase deficiency
46. CHARACTERIZATION OF A MOUSE MODEL FOR REFSUM DISEASE
47. Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis
48. Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts
49. Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: Evidence for a Distinct peroxisomal pristanyl-CoA oxidase
50. Plasma pipecolic acid is frequently elevated in non-peroxisomal disease
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