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Items: 1 to 20 of 112

1.

Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.

Chu TH, Chien YH, Lin HY, Liao HC, Ho HJ, Lai CJ, Chiang CC, Lin NC, Yang CF, Hwu WL, Lee NC, Lin SP, Liu CS, Hu RH, Ho MC, Niu DM.

Orphanet J Rare Dis. 2019 Apr 2;14(1):73. doi: 10.1186/s13023-019-1045-1.

2.

Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency.

Tseng CH, Chien YH, Lee NC, Hsu YC, Peng SF, Tseng WI, Hwu WL.

Ann Neurol. 2019 May;85(5):644-652. doi: 10.1002/ana.25467. Epub 2019 Apr 2.

PMID:
30864153
3.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Lund AM, Rizopoulos D, Kölker S, Williams M; Additional individual contributors from E-IMD.

Mol Genet Metab. 2019 Apr;126(4):397-405. doi: 10.1016/j.ymgme.2019.02.003. Epub 2019 Feb 25.

PMID:
30827756
4.

Electrical Abnormalities in Dopaminergic Neurons of the Substantia Nigra in Mice With an Aromatic L-Amino Acid Decarboxylase Deficiency.

Ho SY, Chien YH, Tsai LK, Muramatsu SI, Hwu WL, Liou HH, Lee NC.

Front Cell Neurosci. 2019 Jan 31;13:9. doi: 10.3389/fncel.2019.00009. eCollection 2019.

5.

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Barić I, Lund AM, Kölker S, Williams M; Additional individual contributors from E-IMD.

J Inherit Metab Dis. 2019 Feb 8. doi: 10.1002/jimd.12066. [Epub ahead of print]

PMID:
30734935
6.

Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments.

Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T.

Proc Natl Acad Sci U S A. 2019 Feb 5;116(6):1823-1824. doi: 10.1073/pnas.1821357116. Epub 2019 Jan 23. No abstract available.

PMID:
30674682
7.

Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia.

Juang JJ, Shun CT, Chen YS, Hwu WL, Lee NC, Tsai WH, Chen NQ, Chien YH.

Genet Med. 2019 Jan 21. doi: 10.1038/s41436-019-0436-y. [Epub ahead of print] No abstract available.

PMID:
30662066
8.

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.

Hsu RH, Chien YH, Hwu WL, Chang IF, Ho HC, Chou SP, Huang TM, Lee NC.

Orphanet J Rare Dis. 2019 Jan 7;14(1):6. doi: 10.1186/s13023-018-0992-2.

9.

A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.

Lee NC, Chien YH, Hwu WL.

Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):226-229. doi: 10.1002/ajmg.c.31670. Epub 2019 Jan 7.

PMID:
30614627
10.

Biparental Inheritance of Mitochondrial DNA in Humans.

Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T.

Proc Natl Acad Sci U S A. 2018 Dec 18;115(51):13039-13044. doi: 10.1073/pnas.1810946115. Epub 2018 Nov 26.

11.

Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency.

Yu HH, Hu TC, Lee NC, Chien YH, Yang YH, Hwu WL, Chiang BL.

J Microbiol Immunol Infect. 2019 Jun;52(3):504-506. doi: 10.1016/j.jmii.2018.04.009. Epub 2018 Aug 31. No abstract available.

12.

Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial.

Chien YH, Lee NC, Tseng SH, Tai CH, Muramatsu SI, Byrne BJ, Hwu WL.

Lancet Child Adolesc Health. 2017 Dec;1(4):265-273. doi: 10.1016/S2352-4642(17)30125-6. Epub 2017 Oct 23.

PMID:
30169182
13.

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.

Mak CC, Leung GK, Mok GT, Yeung KS, Yang W, Fung CW, Chan SH, Lee SL, Lee NC, Pfundt R, Lau YL, Chung BH.

NPJ Genom Med. 2018 Aug 6;3:19. doi: 10.1038/s41525-018-0056-5. eCollection 2018.

14.

Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs.

Hsu RH, Hwu WL, Chen M, Chung IF, Peng SS, Chen CY, Cheng WC, Chien YH, Lee NC.

Pediatr Neonatol. 2019 Feb;60(1):102-104. doi: 10.1016/j.pedneo.2018.04.002. Epub 2018 Apr 13. No abstract available.

15.

Functional independence of Taiwanese children with Prader-Willi syndrome.

Lee CL, Lin HY, Tsai LP, Chiu HC, Tu RY, Huang YH, Chien YH, Lee NC, Niu DM, Chao MC, Tsai FJ, Chou YY, Chuang CK, Lin SP.

Am J Med Genet A. 2018 Jun;176(6):1309-1314. doi: 10.1002/ajmg.a.38705. Epub 2018 Apr 25.

PMID:
29696774
16.

Williams-Beuren syndrome in diverse populations.

Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M.

Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672.

17.

Congenital generalized lipodystrophy in Taiwan.

Hsu RH, Lin WD, Chao MC, Hsiao HP, Wong SL, Chiu PC, Chu SY, Ke YY, Lau BH, Chien YH, Hwu WL, Tsai FJ, Wang CH, Lee NC.

J Formos Med Assoc. 2019 Jan;118(1 Pt 1):142-147. doi: 10.1016/j.jfma.2018.02.003. Epub 2018 Mar 1.

18.

SHOX deficiency in short Taiwanese children: A single-center experience.

Tung YC, Lee NC, Hwu WL, Liu SY, Lee CT, Chien YH, Tsai WY.

J Formos Med Assoc. 2018 Oct;117(10):909-914. doi: 10.1016/j.jfma.2017.11.014. Epub 2017 Dec 16.

19.

A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice.

Lee NC, Hwu WL, Muramatsu SI, Falk DJ, Byrne BJ, Cheng CH, Shih NC, Chang KL, Tsai LK, Chien YH.

Mol Neurobiol. 2018 Jun;55(6):5299-5309. doi: 10.1007/s12035-017-0763-4. Epub 2017 Sep 11.

PMID:
28895054
20.

Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan.

Hwu WL, Chien YH, Lee NC, Li MH.

JIMD Rep. 2018;40:1-6. doi: 10.1007/8904_2017_54. Epub 2017 Aug 31.

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