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Items: 1 to 20 of 229


Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.

Whyte MP, Leung E, Wilcox WR, Liese J, Argente J, Martos-Moreno GÁ, Reeves A, Fujita KP, Moseley S, Hofmann C; Study 011-10 Investigators.

J Pediatr. 2019 Apr 9. pii: S0022-3476(19)30139-8. doi: 10.1016/j.jpeds.2019.01.049. [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.


Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses.

Lin HY, Chan WC, Chen LJ, Lee YC, Yeh SI, Niu DM, Chiu PC, Tsai WH, Hwu WL, Chuang CK, Lin SP.

Mol Genet Genomic Med. 2019 May;7(5):e00617. doi: 10.1002/mgg3.617. Epub 2019 Mar 8.


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]


Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).

Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M.

Mol Genet Metab. 2019 Feb;126(2):98-105. doi: 10.1016/j.ymgme.2018.11.014. Epub 2018 Nov 29. Review.


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.


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

Lin HY, Chuang CK, Ke YY, Hsu CC, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Lin JL, Lin SP.

Pediatr Neonatol. 2018 Aug 23. pii: S1875-9572(18)30270-5. doi: 10.1016/j.pedneo.2018.08.005. [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.


Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period.

Lin HY, Chuang CK, Lee CL, Tu RY, Lo YT, Chiu PC, Niu DM, Fang YY, Chen TL, Tsai FJ, Hwu WL, Lin SJ, Chang TM, Lin SP.

Am J Med Genet A. 2018 Sep;176(9):1799-1809. doi: 10.1002/ajmg.a.40351. Epub 2018 Aug 2.


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.

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