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5. Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review

6. Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

10. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

13. Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

14. Propionic acidemia as a cause of adult-onset dilated cardiomyopathy

15. Creatine Deficiency Syndromes

17. Mutations in RARS cause hypomyelination

20. First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

21. Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation

22. Pyridoxine afhankelijke epilepsie

23. Creatine deficiency syndromes

24. Defecten in de pentose fosfaat route

27. Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

30. Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

34. Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

35. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

36. Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

37. Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

38. Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

39. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.

40. [(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case.

41. Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.

42. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

44. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

47. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

48. An intriguing 'silent' mutation and a founder effect in antiquitin (ALDH7A1).

49. Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.

50. High prevalence of SLC6A8 deficiency in X-linked mental retardation.

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