Shuan-Pei Lin

Shuan-Pei Lin

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Shuan-Pei Lin

Publications by authors named "Shuan-Pei Lin"

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Long-term outcomes of enzyme replacement therapy for Taiwanese patients with Mucopolysaccharidosis I.

Pediatr Neonatol 2019 Oct 29;60(5):577-578. Epub 2019 May 29.

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; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.pedneo.2019.05.005DOI Listing
October 2019

Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux-Lamy syndrome).

Taiwan J Ophthalmol 2019 Jul-Sep;9(3):194-197. Epub 2019 Sep 12.

Rare Disease Center, Mackay Memorial Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.4103/tjo.tjo_85_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759551PMC
September 2019

Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan.

Pediatr Neonatol 2019 08 27;60(4):453-460. Epub 2018 Nov 27.

Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City 25245, Taiwan; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18759572183020
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http://dx.doi.org/10.1016/j.pedneo.2018.11.006DOI Listing
August 2019

Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis.

Sci Rep 2019 Jul 24;9(1):10755. Epub 2019 Jul 24.

Division of Genetics and Metabolism, Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1038/s41598-019-46829-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656773PMC
July 2019

Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA.

Pediatr Neonatol 2019 06 23;60(3):342-343. Epub 2018 Aug 23.

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; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18759572183027
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http://dx.doi.org/10.1016/j.pedneo.2018.08.005DOI Listing
June 2019

Training in clinical genetics and genetic counseling in Asia.

Am J Med Genet C Semin Med Genet 2019 Jun 29;181(2):177-186. Epub 2019 Apr 29.

Department of Pediatrics, College of Medicine, University of the Philippines Manila, Manila, Philippines.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31703
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http://dx.doi.org/10.1002/ajmg.c.31703DOI Listing
June 2019

Awareness of attenuated mucopolysaccharidoses in a pediatric orthopedic clinic.

Pediatr Neonatol 2019 02 9;60(1):100-101. Epub 2018 Jan 9.

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; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.pedneo.2018.01.004DOI Listing
February 2019

A 17-year-old boy with Klinefelter syndrome presenting Marfan syndrome-like clinical features of tall stature, scoliosis, arachnodactyly and subluxation of bilateral elbow joints.

Taiwan J Obstet Gynecol 2018 08;57(4):608-610

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2018.06.025DOI Listing
August 2018

Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.

Am J Hum Genet 2018 02 11;102(2):219-232. Epub 2018 Jan 11.

Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985536PMC
February 2018

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease.

Orphanet J Rare Dis 2017 06 8;12(1):109. Epub 2017 Jun 8.

Division of Pediatric Neurosurgery, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1186/s13023-017-0649-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465581PMC
June 2017

Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.

Taiwan J Obstet Gynecol 2017 Jun;56(3):412-414

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.04.030DOI Listing
June 2017

Awareness of Mucopolysaccharidosis in an Otorhinolaryngologic Clinic.

Pediatr Neonatol 2017 04 16;58(2):198-199. Epub 2017 Feb 16.

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; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.pedneo.2016.12.004DOI Listing
April 2017

Molecular cytogenetic characterization and prenatal diagnosis of familial Xp22.33 microdeletion encompassing short stature homeobox gene in a male fetus with a favorable outcome.

Taiwan J Obstet Gynecol 2017 Apr;56(2):264-267

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2017.01.006DOI Listing
April 2017

A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.

Pediatr Neonatol 2017 02 14;58(1):89-92. Epub 2014 Nov 14.

Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Division of Biochemical Genetics, Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Early Childhood Care and Education, Mackay Junior College of Medicine, Nursing and Management, New Taipei City, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.pedneo.2014.05.008DOI Listing
February 2017

Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay.

Taiwan J Obstet Gynecol 2017 Feb;56(1):93-97

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.12.002DOI Listing
February 2017

Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder.

Taiwan J Obstet Gynecol 2017 Feb;56(1):98-101

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.12.003DOI Listing
February 2017

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities.

Taiwan J Obstet Gynecol 2016 Dec;55(6):852-855

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.08.002DOI Listing
December 2016

Pediatric sialendoscopy in Asians: A preliminary report.

J Pediatr Surg 2016 Oct 7;51(10):1684-7. Epub 2016 Jun 7.

Department of Otolaryngology, School of Medicine, Taipei Medical University, Taipei, Taiwan; Department of Otolaryngology, Taipei Medical University Hospital. Electronic address:

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http://dx.doi.org/10.1016/j.jpedsurg.2016.05.020DOI Listing
October 2016

Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome.

Taiwan J Obstet Gynecol 2016 Oct;55(5):728-732

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2016.06.017DOI Listing
October 2016

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.

Mol Genet Metab 2016 09 12;119(1-2):8-13. Epub 2016 Jul 12.

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; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.07.003DOI Listing
September 2016

Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report.

Medicine (Baltimore) 2016 Sep;95(37):e4842

aDepartment of Pediatric Gastroenterology, Hepatology and Nutrition bDepartment of Neonatology cDepartment of Pediatric General Surgery and Urology dDepartment of Genetics and Metabolism, MacKay Children's Hospital, Taipei eDepartment of Medicine, MacKay Medical College, New Taipei City fDivision of Biochemical Genetics, Department of Medical Research, MacKay Memorial Hospital gDepartment of Early Childhood Care, National Taipei University of Nursing and Health Sciences hMacKay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan.

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http://dx.doi.org/10.1097/MD.0000000000004842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402584PMC
September 2016

Mucopolysaccharidosis Type II-An Unexpected "3 in 1" Family.

Pediatr Neonatol 2016 08 2;57(4):359-60. Epub 2016 Apr 2.

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; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.pedneo.2015.11.005DOI Listing
August 2016

3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.

Mol Genet Metab 2016 08 16;118(4):259-63. Epub 2016 May 16.

Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.

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http://dx.doi.org/10.1016/j.ymgme.2016.05.011DOI Listing
August 2016

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series.

Mol Genet Metab Rep 2016 06 18;7:63-9. Epub 2016 Apr 18.

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; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.ymgmr.2016.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834679PMC
June 2016

Functional independence of Taiwanese children with Down syndrome.

Dev Med Child Neurol 2016 05 2;58(5):502-7. Epub 2015 Sep 2.

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

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http://dx.doi.org/10.1111/dmcn.12889DOI Listing
May 2016

Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.

Mol Genet Metab 2016 Apr 16;117(4):431-7. Epub 2016 Feb 16.

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; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.02.003DOI Listing
April 2016

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

Orphanet J Rare Dis 2015 Dec 1;10:152. Epub 2015 Dec 1.

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

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http://dx.doi.org/10.1186/s13023-015-0370-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666204PMC
December 2015

Mucopolysaccharidosis I (Scheie syndrome): A rare cause of severe aortic stenosis in a 31-year-old man.

J Formos Med Assoc 2015 Oct 5;114(10):1015-6. Epub 2014 Jul 5.

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; Department of Early Infant Care and Education, Mackay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jfma.2014.05.009DOI Listing
October 2015

Pregnancy with de novo 9q34.3 microdeletion and Kleefstra syndrome in the fetus may be associated with an abnormal maternal serum screening result.

Taiwan J Obstet Gynecol 2015 Aug;54(4):450-1

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2015.04.003DOI Listing
August 2015

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.

PLoS One 2014 20;9(3):e90640. Epub 2014 Mar 20.

Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; College of Medicine, Taipei Medical University, Taipei, Taiwan; Institute of Biomedical Sciences and Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0090640PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961212PMC
December 2014

Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.

Biochem Genet 2014 Oct 27;52(9-10):415-29. Epub 2014 May 27.

Department of Education and Research, Taipei City Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1007/s10528-014-9657-6DOI Listing
October 2014

Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7.

Am J Med Genet A 2014 Aug 8;164A(8):2114-7. Epub 2014 Apr 8.

Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1002/ajmg.a.36567DOI Listing
August 2014

Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa.

J Chin Med Assoc 2014 Apr 30;77(4):190-7. Epub 2013 Dec 30.

Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan, ROC; Taiwan Clinical Trial Consortium in Fabry Disease, ROC; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC. Electronic address:

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http://dx.doi.org/10.1016/j.jcma.2013.11.006DOI Listing
April 2014

Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses.

Mol Genet Metab 2014 Apr 16;111(4):533-8. Epub 2014 Feb 16.

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; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.02.003DOI Listing
April 2014

Cardiovascular abnormalities in Taiwanese patients with mucopolysaccharidosis.

Mol Genet Metab 2014 Apr 21;111(4):493-8. Epub 2014 Feb 21.

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.02.009DOI Listing
April 2014

Characterization of pulmonary function impairments in patients with mucopolysaccharidoses--changes with age and treatment.

Pediatr Pulmonol 2014 Mar 8;49(3):277-84. Epub 2013 Feb 8.

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.

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http://dx.doi.org/10.1002/ppul.22774DOI Listing
March 2014

A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.

Taiwan J Obstet Gynecol 2014 Mar;53(1):74-8

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2013.10.037DOI Listing
March 2014

Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid diagnosis of true mosaicism in a case of level II mosaicism involving trisomy 21 in a single colony from an in situ culture of amniocytes.

Taiwan J Obstet Gynecol 2014 Mar;53(1):120-2

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2013.11.001DOI Listing
March 2014

Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation.

Gene 2014 Feb 23;535(1):88-92. Epub 2013 Nov 23.

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.gene.2013.11.026DOI Listing
February 2014

Comparison of free fatty acid content of human milk from Taiwanese mothers and infant formula.

Taiwan J Obstet Gynecol 2013 Dec;52(4):527-33

Institute of Biotechnology, National Taipei University of Technology, 1 Zhongxiao East Road, Section 3, Taipei 10608, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.tjog.2013.10.013DOI Listing
December 2013

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).

Clin Chim Acta 2013 Nov 19;426:114-20. Epub 2013 Sep 19.

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.

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https://linkinghub.elsevier.com/retrieve/pii/S00098981130034
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http://dx.doi.org/10.1016/j.cca.2013.09.008DOI Listing
November 2013

An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy.

Gene 2013 Oct 7;529(1):176-80. Epub 2013 Aug 7.

Department of Obstetrics and Gynecology, 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 Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.07.045DOI Listing
October 2013

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.

Orphanet J Rare Dis 2013 Sep 22;8:147. Epub 2013 Sep 22.

Division of Genetics and Metabolism, Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1186/1750-1172-8-147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849552PMC
September 2013

6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay.

Gene 2013 Jul 8;523(1):99-102. Epub 2013 Apr 8.

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.gene.2013.03.121DOI Listing
July 2013

Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses.

Orphanet J Rare Dis 2013 May 11;8:71. Epub 2013 May 11.

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

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http://dx.doi.org/10.1186/1750-1172-8-71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698009PMC
May 2013

Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism.

Taiwan J Obstet Gynecol 2013 Mar;52(1):106-9

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.tjog.2013.01.013DOI Listing
March 2013

Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction-mimetic agent.

Prostate 2012 Dec 26;72(16):1767-78. Epub 2012 Apr 26.

Division of Medicinal Chemistry, College of Pharmacy, The Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1002/pros.22530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867924PMC
December 2012

Functional independence of Taiwanese children with VACTERL association.

Am J Med Genet A 2012 Dec 19;158A(12):3101-5. Epub 2012 Nov 19.

Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1002/ajmg.a.33643DOI Listing
December 2012

Sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus syndrome.

Pediatr Dermatol 2012 May-Jun;29(3):365-7. Epub 2011 Nov 28.

Department of Dermatology and Mackay Memorial Hospital, Taipei, Taiwan.

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http://doi.wiley.com/10.1111/j.1525-1470.2011.01639.x
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http://dx.doi.org/10.1111/j.1525-1470.2011.01639.xDOI Listing
September 2012

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

Mol Genet Metab 2012 Sep 20;107(1-2):136-44. Epub 2012 Jul 20.

Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei 100, Taiwan.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.019DOI Listing
September 2012

Migration of a port-a-cath from the femoral vein into the duodenum 10 months after implantation.

J Pediatr 2012 Jul 5;161(1):165.e1. Epub 2012 Apr 5.

Department of Pediatrics, Hsinchu Mackay Memorial Hospital, Hsinchu City, Taiwan.

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http://dx.doi.org/10.1016/j.jpeds.2012.02.030DOI Listing
July 2012

Rapid progressive course of later-onset Pompe disease in Chinese patients.

Mol Genet Metab 2011 Nov 22;104(3):284-8. Epub 2011 Jun 22.

Department of Neurology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.ymgme.2011.06.010DOI Listing
November 2011

Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis.

J Mol Diagn 2011 Nov 1;13(6):609-13. Epub 2011 Sep 1.

Graduate Institutes of Clinical Genomics, National Taiwan University Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.jmoldx.2011.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194052PMC
November 2011

Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome.

J Formos Med Assoc 2011 Nov 20;110(11):719-23. Epub 2011 Oct 20.

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.

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http://dx.doi.org/10.1016/j.jfma.2011.09.010DOI Listing
November 2011

Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene.

BMC Med Genet 2011 May 26;12:76. Epub 2011 May 26.

Graduate Institute of Clinical Genomics, National Taiwan University College of Medicine, Taipei, Taiwan.

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http://dx.doi.org/10.1186/1471-2350-12-76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119181PMC
May 2011

RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia.

Genet Mol Biol 2011 Apr 1;34(2):201-4. Epub 2011 Apr 1.

Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115309PMC
April 2011