Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities.

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作者： Federico,Baronio ^[1] ; Stefano,Zucchini ^[1] ; Francesco,Zulian ^[2] ; Mariacarolina,Salerno ^[3] ; Rossella,Parini ^[4] ; Alessandro,Cattoni ^[4] ; Federica,Deodato ^[5] ; Alberto,Gaeta ^[6] ; Carla,Bizzarri ^[7] ; Serena,Gasperini ^[4] ; Andrea,Pession ^[1]

作者单位： Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy. ^[1] Rheumatology Unit, Department of Woman's and Child's Health, University of Padua, 35128 Padua, Italy. ^[2] Pediatric Endocrine Unit, Department of Translational Medical Sciences, University of Naples Federico II, 80131 Naples, Italy. ^[3] Department of Pediatrics, Milano-Bicocca University, Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy. ^[4] Division of Metabolic Disease, Bambino Gesù Children's Hospital IRCSS, 00165 Rome, Italy. ^[5] Radiology Unit, Pediatric Hospital Giovanni XXIII, 70123 Bari, Italy. ^[6] Unit of Endocrinology, Bambino Gesù Children's Hospital, 00165 Rome, Italy. ^[7]

关键词 diagnostic algorithm dysostosis multiplex joint contractures mucopolysaccharidosis short stature

主题词算法(Algorithms);儿童(Child);延迟诊断(Delayed Diagnosis);生长障碍(Growth Disorders);人类(Humans);黏多糖累积病(Mucopolysaccharidoses);黏多糖累积病Ⅰ型(Mucopolysaccharidosis I)

DOI 10.3390/medicina58010097

PMID 35056405

发布时间 2022-01-28

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