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Molecular Genetics and Metabolism|July 21, 2009
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort studyJ E Wraith, N Guffon, M Rohrbach, et al.Journal of Inherited Metabolic Disease|July 3, 2007
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 yearY-H Chien, N-C Lee, L-K Tsai, et al.Journal of Structural Biology|May 13, 2008
Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescenceE Ralston, B Swaim, M Czapiga, et al.Genetic Counseling (Geneva, Switzerland)|May 23, 2007
Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome)C P Chen, S P Lin, C Y Tzen, et al.Bone Marrow Transplantation|August 6, 1999
Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantationY S Hsu, W L Hwu, S F Huang, et al.Molecular Genetics and Metabolism Reports|March 25, 2021
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian casesFrancyne Kubaski, Zackary M Herbst, Danilo A A Pereira, et al.Molecular Genetics and Metabolism Reports|January 18, 2024
Corrigendum to "Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases" [27/100744/2021/ pages: 1-4]Francyne Kubaski, Zackary M Herbst, Danilo A A Pereira, et al.Journal of Inherited Metabolic Disease|April 6, 2012
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type CY H Chien, S F Peng, C C Yang, et al.Journal of the Formosan Medical Association = Taiwan Yi Zhi|September 1, 1996
Chromosomal rearrangements detected by FISH and G-bandingJ W Hou, T R WangJournal of the Formosan Medical Association = Taiwan Yi Zhi|February 1, 1996
Amino acid and DNA analyses in a family with ornithine transcarbamylase deficiencyJ W Hou, T R WangPageof 17