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Items: 1 to 20 of 183


International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.

Muntau AC, Adams DJ, Bélanger-Quintana A, Bushueva TV, Cerone R, Chien YH, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen FJ, Vargas P, Wilcox G, Bhattacharya K.

Mol Genet Metab. 2019 Apr 26. pii: S1096-7192(19)30037-X. doi: 10.1016/j.ymgme.2019.04.004. [Epub ahead of print] Review.


Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia.

Chee SY, Guo JW, Huang CJ, Chien YH, Lee YC, Feng WK.

Cytogenet Genome Res. 2019 Apr 27. doi: 10.1159/000499956. [Epub ahead of print]


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.


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.


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 Feb 25. pii: S1096-7192(18)30658-9. doi: 10.1016/j.ymgme.2019.02.003. [Epub ahead of print]


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.


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]


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.


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.


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.


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 Jan 7. doi: 10.1002/ajmg.c.31670. [Epub ahead of print]


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.


Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center.

Lin CJ, Chien YH, Lai TS, Shih HM, Chen YC, Pan CF, Chen HH, Hwu WL, Wu CJ.

Kidney Blood Press Res. 2018;43(5):1636-1645. doi: 10.1159/000494678. Epub 2018 Oct 31.


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. 2018 Aug 31. pii: S1684-1182(18)30337-2. doi: 10.1016/j.jmii.2018.04.009. [Epub ahead of print] No abstract available.


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.


Monitoring of liver stiffness by transient elastography during the treatment of Gaucher disease.

Chin CY, Hsu CT, Lee CS, Chien YH, Wu JF.

Pediatr Neonatol. 2019 Apr;60(2):221-223. doi: 10.1016/j.pedneo.2018.05.002. Epub 2018 May 12. No abstract available.


Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS).

Lin HY, Chuang CK, Chen MR, Lin SJ, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Chien YH, Lin JL, Lin SP.

Orphanet J Rare Dis. 2018 Jun 4;13(1):89. doi: 10.1186/s13023-018-0827-1.


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.


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.


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.

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