Dau Ming Niu

Summary

Affiliation: Tri-Service General Hospital
Country: Taiwan

Publications

  1. doi request reprint Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004
    Hsiang Yu Lin
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan
    Am J Med Genet A 149:960-4. 2009
  2. ncbi request reprint Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis
    Dau Ming Niu
    Institute of Clinical Medicine, National Yang Ming University, Taipei 112, Taiwan
    J Clin Endocrinol Metab 94:5045-52. 2009
  3. pmc Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses
    Hsiang Yu Lin
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Orphanet J Rare Dis 8:71. 2013
  4. doi request reprint Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan
    Dau Ming Niu
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
    Brain Dev 33:847-55. 2011
  5. doi request reprint Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
    Dau Ming Niu
    Institute of Clinical Medicine, School of Medicine, National Yang Ming University, No 155, Sec 2, Linong Street, Taipei, Taiwan
    J Inherit Metab Dis 33:S295-305. 2010
  6. doi request reprint Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children
    Dau Ming Niu
    Institute of Clinical Medicine, School of Medicine, National Yang Ming University, No 155, Sec 2, Linong Street, Taipei, 112, Taiwan, Republic of China
    J Inherit Metab Dis 33:437-43. 2010
  7. doi request reprint Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)
    Hsiang Yu Lin
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan
    J Inherit Metab Dis 33:619-24. 2010
  8. ncbi request reprint Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan
    Hsiang Yu Lin
    Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    Acta Paediatr 96:902-5. 2007
  9. ncbi request reprint Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis
    Ni Chung Lee
    Department of Pediatrics, Taipei Veterans General Hospital and National Yang Ming University, School of Medicine, Taipei, Taiwan
    J Formos Med Assoc 104:964-7. 2005
  10. ncbi request reprint Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency
    Ni Chung Lee
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
    Mol Genet Metab 87:128-34. 2006

Collaborators

Detail Information

Publications54

  1. doi request reprint Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004
    Hsiang Yu Lin
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan
    Am J Med Genet A 149:960-4. 2009
    ..It remains to be investigated whether this discrepancy is attributed to the under-diagnosis of MPS I in Taiwan or to ethnic differences...
  2. ncbi request reprint Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis
    Dau Ming Niu
    Institute of Clinical Medicine, National Yang Ming University, Taipei 112, Taiwan
    J Clin Endocrinol Metab 94:5045-52. 2009
    ..Although only 44 mutations of the human TG gene have been identified, we have suspected a TG defect in 38% of Taiwan Chinese children/adolescents presenting with moderate or severe thyroidal dyshormonogenesis...
  3. pmc Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses
    Hsiang Yu Lin
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Orphanet J Rare Dis 8:71. 2013
    ..Patients with mucopolysaccharidoses (MPS) are associated with poor bone growth and mineralization, however, information regarding the assessment of bone mineral density (BMD) in relation to age and treatment in this disorder is limited...
  4. doi request reprint Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan
    Dau Ming Niu
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
    Brain Dev 33:847-55. 2011
    ..7; range: 86-119), which is considerably higher than previous reports of other populations of PTPS-deficient patients. In this report, we reviewed the disorders of BH4 briefly and then described treatments of our PTPS-deficient patients...
  5. doi request reprint Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
    Dau Ming Niu
    Institute of Clinical Medicine, School of Medicine, National Yang Ming University, No 155, Sec 2, Linong Street, Taipei, Taiwan
    J Inherit Metab Dis 33:S295-305. 2010
    ..This is the largest case of MS/MS newborn screening in an East-Asian population to date. We hereby report the incidences and outcomes of metabolic inborn error diseases found in our nationwide MS/MS newborn screening program...
  6. doi request reprint Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children
    Dau Ming Niu
    Institute of Clinical Medicine, School of Medicine, National Yang Ming University, No 155, Sec 2, Linong Street, Taipei, 112, Taiwan, Republic of China
    J Inherit Metab Dis 33:437-43. 2010
    ..It is possible that another 23-month-old female patient also responded more slowly to ezetimibe treatment than older patients...
  7. doi request reprint Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)
    Hsiang Yu Lin
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan
    J Inherit Metab Dis 33:619-24. 2010
    ..Our findings contribute to the limited understanding of the course of this late-onset disease variant and underscore the need for close follow up in such patients...
  8. ncbi request reprint Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan
    Hsiang Yu Lin
    Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    Acta Paediatr 96:902-5. 2007
    ..Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader-Willi syndrome (PWS)...
  9. ncbi request reprint Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis
    Ni Chung Lee
    Department of Pediatrics, Taipei Veterans General Hospital and National Yang Ming University, School of Medicine, Taipei, Taiwan
    J Formos Med Assoc 104:964-7. 2005
    ..Intragenic linkage analysis in Marfan syndrome is very helpful in its diagnosis and management within affected families...
  10. ncbi request reprint Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency
    Ni Chung Lee
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
    Mol Genet Metab 87:128-34. 2006
    ..Reports of the long-term outcomes of these patients, especially after delayed onset of therapy, are few...
  11. doi request reprint Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao
    Yung Hsiu Lu
    Department of Pediatrics, Taipei Veterans General Hospital Taipei, Taiwan
    Mol Genet Metab 105:590-5. 2012
    ..Comparisons of clinical and biochemical phenotypes of these patients were presented in this report...
  12. doi request reprint High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population
    Hsiang Yu Lin
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan
    Circ Cardiovasc Genet 2:450-6. 2009
    ..Fabry disease is a treatable lysosomal storage disorder, which is often misdiagnosed or belatedly diagnosed...
  13. doi request reprint Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22
    Yu Hsiu Huang
    Department of Pediatrics, Taipei Veterans General Hospital, Taiwan, ROC
    Blood Cells Mol Dis 49:114-7. 2012
    ..This is the first case report of a patient with cb5r deficiency type I resulting from uniparental disomy and also discloses an alternate mechanism whereby this enzymatic disorder can be derived from a single parent...
  14. doi request reprint Growth hormone therapy in neonatal patients with methylmalonic acidemia
    Chuan Hong Kao
    Department of Pediatrics, Far Eastern Memorial Hospital, Taipei, Taiwan, ROC
    J Chin Med Assoc 72:462-7. 2009
    ..Information regarding growth hormone (GH) therapy in neonatal patients with methylmalonic academia (MMA) is lacking. We present our experience with GH therapy in neonatal patients with MMA...
  15. ncbi request reprint Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan
    Hsiang Yu Lin
    Department of Pediatrics, Mackay Memorial Hospital, No 92, Sec 2 Chung Shan North Road, Taipei 10449, Taiwan
    J Inherit Metab Dis 33:S421-7. 2010
    ..ERT was well tolerated by all patients. This treatment is thus beneficial and appears to be safe for treatment of MPS VI in Taiwanese patients...
  16. doi request reprint Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan
    Kang Hsiang Cheng
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC
    J Chin Med Assoc 73:314-8. 2010
    ..It is therefore very important to differentiate affected from unaffected neonates immediately when there are abnormal results regarding MMA in newborn screening...
  17. pmc A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect
    Dau Ming Niu
    Institute of Clinical Medicine, School of Medicine, National Yang Ming University, Taipei, Taiwan
    J Med Genet 43:817-21. 2006
    ..This report provides a good model to explain the mechanism of penetrance of genetic disorders...
  18. ncbi request reprint Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)
    Ting Rong Hsu
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan
    Orphanet J Rare Dis 9:96. 2014
    ..The purpose of this study is to identify the cardiac pathologic characteristics in patients with left ventricular hypertrophy and this mutation..
  19. ncbi request reprint Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses
    Hsiang Yu Lin
    Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan
    Mol Genet Metab 111:533-8. 2014
    ..Patients with mucopolysaccharidoses (MPS) often have hearing loss. However, the characterization of hearing loss by pure-tone audiometry (PTA) in this rare disease population and its relationship to age and treatment is limited...
  20. ncbi request reprint Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan
    Hsuan Chieh Liao
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan The Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan
    Clin Chim Acta 431:80-6. 2014
    ..We report a pilot study of large scale newborn screening for Fabry, Pompe, Gaucher, and MPS I diseases by using the MS/MS method in Taiwan and compared the performance of the MS/MS with 4-MU methods...
  21. doi request reprint The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots
    Chang Long Tai
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
    Clin Chim Acta 413:422-7. 2012
    ..In the previous newborn screening, from 299,007 newborns, we identified a total of 20 different Fabry mutations and 121 newborns with Fabry mutations. However, we found that most female carriers are not detected by enzyme assays...
  22. doi request reprint Characterization of pulmonary function impairments in patients with mucopolysaccharidoses--changes with age and treatment
    Shuan Pei Lin
    Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan Department of Early Infant Care and Education, Mackay Medicine, Nursing and Management College, Taipei, Taiwan Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan
    Pediatr Pulmonol 49:277-84. 2014
    ..Impairment of pulmonary function is an important health problem for patients with MPS. However, there are few published reports on the prevalence and severity of pulmonary dysfunction in relation to age and treatment in this disorder...
  23. doi request reprint Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome
    Hsiang Yu Lin
    Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan Department of Medical Research, Mackay Memorial Hospital, Number 92, Section 2 Chung Shan North Road, Taipei, Taiwan
    J Formos Med Assoc 110:719-23. 2011
    ..BIA confirmed a significantly higher percentage of body fat in patients with PWS compared with normal children. These findings and the follow-up data can be used to develop quality care strategies for patients with PWS...
  24. ncbi request reprint Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome
    Dau Ming Niu
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
    Prenat Diagn 26:1054-7. 2006
    ..We report two siblings, a boy and a girl, with Cornelia de Lange syndrome (CdLS), born to unaffected parents, and attempt to delineate the underlying molecular mechanism leading to familial recurrence...
  25. ncbi request reprint Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
    Chia Cheng Hung
    Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
    Ann Hum Genet 73:559-67. 2009
    ..This is the first study of the mutation spectrum of MFS in a cohort of patients in Taiwan. The database is expected to considerably improve genetic counseling for and medical care of MFS families...
  26. doi request reprint Polysomnographic characteristics in patients with mucopolysaccharidoses
    Hsiang Yu Lin
    Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    Pediatr Pulmonol 45:1205-12. 2010
    ..The overnight polysomnography will help to determine the abnormalities of breathing during sleep more precisely and urge the clinicians to take necessary action for patients with severe manifestations...
  27. ncbi request reprint Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
    Hsiang Yu Lin
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan, ROC Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, ROC Department of Medicine, Mackay Medical College, New Taipei City, Taiwan, ROC Mackay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan, ROC Taiwan Clinical Trial Consortium in Fabry Disease, ROC
    J Chin Med Assoc 77:190-7. 2014
    ..Since June 2009, viral contamination of Genzyme's production facility has resulted in a worldwide shortage of agalsidase beta, leading to the switch to agalsidase alfa for patients with Fabry disease in Taiwan...
  28. doi request reprint Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A)
    Hsuan Chieh Liao
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan Chinese Foundation of Health, Section of Newborn Screening Center, Taipei, Taiwan Taiwan Clinical Trial Consortium in Fabry Disease, Taiwan
    Clin Chim Acta 426:114-20. 2013
    ..Previous studies revealed a high incidence of late-onset Fabry disease mutation, IVS4+919G>A, in Taiwan. However, the natural course is largely unclear and suitable biomarkers for monitoring disease progress are unavailable...
  29. ncbi request reprint Functional defects of CD46-induced regulatory T cells to suppress airway inflammation in mite allergic asthma
    Yi Giien Tsai
    Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan
    Lab Invest 92:1260-9. 2012
    ..Results provide the first evidence that decreased interaction between CD46-mediated Tregs and lung epithelial cells with less IL-10/granzyme B production may cause airway inflammation in allergic asthma...
  30. pmc Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients
    Mei Ying Liu
    Institute of Genetics, National Yang Ming University, Taipei, Taiwan, Republic of China
    JIMD Rep 6:55-64. 2012
    ....
  31. doi request reprint Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations
    Yen Hui Chiu
    Institute of Genetics, National Yang Ming University, Taipei, Taiwan
    J Hum Genet 57:145-52. 2012
    ..In this context, D11S1347 should become one of the most reliable polymorphic markers for use in prenatal diagnosis among PTPS deficient families, especially where mutations are yet to be identified...
  32. doi request reprint Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency
    Kai Ming Liu
    Insitute of Clinical Medicine, School of Medicine, Taipei, Taiwan
    Arch Neurol 65:387-92. 2008
    ..To report the long-term results of early initiation of treatment of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency...
  33. doi request reprint A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment
    Chia Feng Yang
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan
    Am J Med Genet A 164:54-61. 2014
    ..Such differentiation allows for the early application of first-time ERT and leads to better outcomes...
  34. ncbi request reprint Clinical features of Ehlers-Danlos syndrome
    Jui Lung Yen
    Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    J Formos Med Assoc 105:475-80. 2006
    ..This retrospective study analyzed the characteristics of patients with EDS...
  35. ncbi request reprint Mosaic or chimera? Revisiting an old hypothesis about the cause of the 46,XX/46,XY hermaphrodite
    Dau Ming Niu
    Department of Pediatrics, Veterans General Hospital Taipei, Institute of Clinical Medicine and Genome Research Center, Taiwan
    J Pediatr 140:732-5. 2002
    ..A cell lineage in a hermaphrodite infant showing a 46,XX/46,XY karyotype was analyzed to determine the genetic contribution from both parents and identify the underlying mechanism...
  36. ncbi request reprint Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature
    Jen Chung Chien
    Department of Paediatrics, Taipei Veterans General Hospital, National Yang Ming University, Taipei, Taiwan
    Eur J Pediatr 164:350-4. 2005
    ....
  37. ncbi request reprint High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry
    Sheng Hung Lee
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan
    Mol Genet Metab 111:507-12. 2014
    ..However, we found that most heterozygous females cannot be detected. To improve the screening efficiency, a more effective method for GLA gene genotyping is necessary...
  38. doi request reprint Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
    Shin Yu Lin
    Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, and Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan
    Am J Med Genet A 152:2521-8. 2010
    ..If no epimutation is identified in the patients with typical SRS, microdeletions should be suspected...
  39. ncbi request reprint High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect
    Dau Ming Niu
    Department of Pediatrics, Veterans General Hospital Taipei, Taiwan
    J Clin Endocrinol Metab 87:4208-12. 2002
    ..00 and 0.02, respectively (P < 0.0001). This indicates that this common novel mutation among Taiwanese patients with TIOD is due to a founder effect...
  40. pmc Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability
    Tjin Shing Jap
    Section of Biochemistry, Department of Pathology and Laboratory Medicine, Division of Metabolism, Taipei Veterans General Hospital, Taiwan 112, Taiwan, ROC
    Calcif Tissue Int 88:370-7. 2011
    ..663+2delT and c.1899+2T>A, and two previously reported missense mutations, p.C733Y and p.G579R. These data extend the spectrum of mutations in the PHEX gene in Han Chinese and confirm variability for XLH in Taiwan...
  41. doi request reprint The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population
    Ying Liang
    Department of Life Sciences and Institute of Genome Sciences, National Yang Ming University, Taipei, Taiwan
    J Hum Genet 59:145-52. 2014
    ..Our study of PAH mutation spectrum and the associated haplotypes is useful for subsequent study on the origin and migration pattern via Taiwan, an island at the historical crossroad of migration of ancient populations. ..
  42. ncbi request reprint A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus
    Wei Lun Chang
    Division of Endocrinology and Metabolism, Department of Medicine, Taipei, Taiwan, ROC
    Diabetes Res Clin Pract 104:e29-32. 2014
    ..We identified a novel missense heterogeneous mutation in the KCNJ11 gene at codon 167 (aTC→tTC) in a region that corresponds to a predicted intracellular gate of the ATP-sensitive potassium channel. ..
  43. doi request reprint Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening
    Kang Hsiang Cheng
    Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, R O C
    J Chin Med Assoc 70:562-4. 2007
    ..Since homocystinuria is easily missed in neonatal screening programs, it should be suspected in patients who present with lenticular subluxation, even after a negative neonatal screen...
  44. ncbi request reprint Corneal lesion as the initial manifestation of tyrosinemia type II
    Chun Pin Tsai
    Department of Ophthalmology, Taipei Veterans General Hospital, Taiwan, ROC
    J Chin Med Assoc 69:286-8. 2006
    ..Early diagnosis and intervention with diet control are crucial for preventing permanent visual and developmental deficits. Corneal deposits can be one of the parameters in monitoring the efficacy of diet control...
  45. ncbi request reprint Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency
    Hsien Hsiung Lee
    King Car Food Industrial Co, Ltd, Yuan Shan Research Institute, Taiwan, Republic of China
    J Hum Genet 47:517-22. 2002
    ..It is plausible that both consensus sequences are responsible for the gene conversion of these two chimeric genes...
  46. ncbi request reprint Subtle brain dysfunction in treated 6-pyruvoyl-tetrahydropterin synthase deficiency: relationship to motor tasks and neurophysiological tests
    Chuen Der Kao
    Neurological Institutes, Taipei Veterans General Hospital, Taipei 11217, Taiwan, ROC
    Brain Dev 26:93-8. 2004
    ..They may not maintain movement rhythm as well as normal subjects, even with external cues. Hence, MRV is a good method to assess motor control...
  47. ncbi request reprint Prader-Willi syndrome in Taiwan
    Hsiang Yu Lin
    Department of Pediatrics, Mackay Memorial Hospital, and Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    Pediatr Int 49:375-9. 2007
    ..Prader-Willi syndrome (PWS) is a congenital disorder caused by absent expression of paternal genes in 15q11-13 affecting multiple systems. The information concerning the clinical features of this genetic disorder is incomplete in Taiwan...
  48. ncbi request reprint Electrophysiological changes in lipaemia retinalis
    Chao Kung Lu
    Department of Ophthalmology, Taipei Veterans General Hospital, 201 Section 2 Shih Pai Road, Taipei 112, Taiwan
    Am J Ophthalmol 139:1142-5. 2005
    ..To report the electrophysiologic findings in a patient with lipaemia retinalis...
  49. pmc Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction-mimetic agent
    Hsiang Yu Lin
    Division of Medicinal Chemistry, College of Pharmacy, The Ohio State University, Columbus, Ohio 43210, USA
    Prostate 72:1767-78. 2012
    ..Targeting tumor metabolism by energy restriction-mimetic agents (ERMAs) has emerged as a strategy for cancer therapy/prevention. Evidence suggests a mechanistic link between ERMA-mediated antitumor effects and epigenetic gene regulation...
  50. ncbi request reprint Clinical aspects of X-linked hypophosphatemic rickets
    Wen Ting Chung
    Department of Pediatrics, Taipei Veterans General Hospital, National Yang Ming University, Taiwan
    Acta Paediatr Taiwan 43:26-34. 2002
    ..Thirteen of 15 cases had elevated alkaline phosphatase activity; two showed hyperparathyroidism. Four cases had sufficient follow-up growth data and had an increase in height percentile and velocity after combination therapy...
  51. ncbi request reprint TLR2 agonists enhance CD8+Foxp3+ regulatory T cells and suppress Th2 immune responses during allergen immunotherapy
    Yi Giien Tsai
    Department of Pediatrics, Changhua Christian Hospital and Institute of Clinical Medicine, National Ynag Ming University, Taipei, Taiwan, Republic of China
    J Immunol 184:7229-37. 2010
    ..Our results provide direct evidence that Pam3CSK4 induces an immunomodulatory effect by inducing CD8+ Treg cells; therefore, it may be a good adjuvant for the treatment of mite allergies...
  52. doi request reprint Giant congenital melanocytic nevi in neonates: report of two cases
    Jen Chung Chien
    Department of Pediatrics, Lo Tung Pohai Hospital, Ilan, Taiwan
    Pediatr neonatol 51:61-4. 2010
    ..Here, we describe these two cases with congenital melanocytic nevi and review the literature about its clinical manifestations, outcomes, risks for malignant melanoma and neurocutaneous melanosis, and possible surgical interventions...
  53. ncbi request reprint Severe hyponatremia due to ACTH insufficiency in a 14 year-old girl with growth hormone deficiency
    Lo Lin Tseng
    Department of Pediatrics, Lo Tung St Mary s Hospital, Taipei, Taiwan
    J Pediatr Endocrinol Metab 23:197-201. 2010
    ..The purpose of this paper is to emphasize the importance of suspecting ACTH insufficiency in children with GH deficiency if hyponatremia develops...