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Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.

• Authors : Liu, Yi^1,2 (AUTHOR); Chen, Zhehui¹ (AUTHOR); Dong, Hui¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 3/24/2022, Vol. 17 Issue 1, p1-13. 13p.

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Clinical and genetic characteristics of hypophosphatasia in Chinese children

• Authors : Meijuan Liu; Min Liu; Xuejun Liang

Subjects: Hypophosphatasia; ALPL; Mutations

• Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

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Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children’s Hospital in China

• Authors : Qian Shen; Jialu Liu; Jing Chen

Subjects: Male; China; Fabry disease

• Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)Orphanet Journal of Rare Diseases

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Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.

• Authors : Shen, Qian¹ (AUTHOR); Liu, Jialu¹ (AUTHOR); Chen, Jing¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 12/14/2021, Vol. 16 Issue 1, p1-9. 9p.

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Clinical and genetic characteristics of hypophosphatasia in Chinese children.

• Authors : Liu, Meijuan¹ (AUTHOR); Liu, Min¹ (AUTHOR); Liang, Xuejun¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 4/7/2021, Vol. 16 Issue 1, p1-13. 13p.

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Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.

• Authors : Zhang, Bin^1,2 (AUTHOR) ; He, Rui¹ (AUTHOR); Xu, Zigang¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 9/1/2023, Vol. 18 Issue 1, p1-12. 12p.

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Treatment regimens, patient reported outcomes and health-related quality of life in children with moderate and severe hemophilia A in China: using real-world data.

• Authors : Zhang, Luying¹ (AUTHOR); Zhang, Peng^1,2 (AUTHOR); Chen, Wen¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 8/4/2023, Vol. 18 Issue 1, p1-9. 9p.

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Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.

• Authors : Jian Wang¹; Ying Guo²; Meirong Huang²

• Source: Orphanet Journal of Rare Diseases. 2/10/2017, Vol. 12, p1-9. 9p.

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Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

• Authors : Power, Bradley¹ ; Ferreira, Carlos R.¹ ; Chen, Dong²

• Source: Orphanet Journal of Rare Diseases. 2/21/2019, Vol. 14 Issue 1, pN.PAG-N.PAG. 1p.

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

• Authors : Hsu, Rai-Hseng^1,2,3 ; Chien, Yin-Hsiu^1,2 ; Hwu, Wuh-Liang^1,2

• Source: Orphanet Journal of Rare Diseases. 1/7/2019, Vol. 14 Issue 1, pN.PAG-N.PAG. 1p.

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