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A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites
We report a case of a patient with severe fetal hydrops and refractory ascites, diagnosed as mucopolysaccharidosis type VII (MPS VII) by whole-exome sequencing, and discharged at 5 months of age after long-term ventilatory management. A male neonate was born by emergency cesarean section due to feta...
Autores principales: | Fukui, Kana, Amari, Shoichiro, Yotani, Nobuyuki, Kosaki, Rika, Hata, Kenichiro, Kosuga, Motomichi, Sago, Haruhiko, Isayama, Tetsuya, Ito, Yushi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Thieme Medical Publishers, Inc.
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10019997/ https://www.ncbi.nlm.nih.gov/pubmed/36936745 http://dx.doi.org/10.1055/a-2028-7784 |
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