238 results on '"Hahn, Si Houn"'
Search Results
2. Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report
3. ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine
4. Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease
5. The Genetics of Wilson Disease
6. List of Contributors
7. Population Screening for Wilson Disease
8. Contributors
9. A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly
10. Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report
11. An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease
12. Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders
13. The genetics of Wilson disease
14. Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease
15. A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I
16. Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease
17. Home-infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials (COMET, NEO-EXT, and Mini-COMET)
18. Mini-COMET study: Safety, biomarker, and efficacy data after avalglucosidase alfa dosing for ≥ 97 weeks in participants with infantile-onset pompe disease (IOPD) previously treated with alglucosidase alfa who had demonstrated clinical decline
19. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
20. Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
21. A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly
22. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort
23. Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease
24. Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease
25. Newborn screening and renal disease: where we have been; where we are now; where we are going
26. Population screening for Wilsonʼs disease
27. Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy
28. Mini-COMET: Individual-level treatment responses in infantile-onset Pompe disease participants receiving avalglucosidase alfa or alglucosidase alfa who previously received alglucosidase alfa
29. Mini-COMET: effects of avalglucosidase alfa on ptosis in participants with infantile-onset Pompe disease previously treated with alglucosidase alfa
30. Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L)
31. Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes
32. p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease
33. Mini-COMET study: Individual participant-level responses to treatment in patients with infantile-onset Pompe disease receiving repeated dose regimens of avalglucosidase alfa or alglucosidase alfa who were previously treated with alglucosidase alfa
34. Mini-COMET study: Effects of repeat avalglucosidase alfa dosing on ptosis in participants with infantile-onset Pompe disease (IOPD) who were previously treated with alglucosidase alfa
35. An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease
36. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
37. Assay to Measure Oxidized and Reduced Forms of CoQ by LC–MS/MS
38. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
39. Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum
40. Clinical Molecular Diagnosis of Wilson Disease
41. Chapter 9 - The Genetics of Wilson Disease
42. Chapter 26 - Population Screening for Wilson Disease
43. p. P1379S , a benign variant with reduced ATP7B protein level in Wilson Disease
44. Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots
45. The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis
46. Wilson Disease—Keeping the Bar for Diagnosis Raised*
47. Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia
48. The First Successful Prenatal Diagnosis on a Korean Family with Citrullinemia
49. Nuclear proteins that bind to metal response element a (MREa) in the Wilson disease gene promoter are Ku autoantigens and the Ku-80 subunit is necessary for basal transcription of the WD gene
50. Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: Identification of a novel mutation
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