P495: Hunter syndrome and hemophilia A: A case of two X-linked syndromes occurring in one individual

Currently, the patient is treated with weekly infusions of Idursulfase (Elaprase), which is an enzyme replacement therapy for patients with Hunter syndrome, as well as Emicizumab (Hemlibra) for hemophilia A. A multidisciplinary team of specialists is involved in this patient’s care. He has received myringotomy tubes for recurrent ear infections and serial casting for hand, ankle, and elbow contractures.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103362
Primary Topic
Biochemical and Molecular Research
Type
article
Field-Weighted Citation Impact
0.00
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article

P495: Hunter syndrome and hemophilia A: A case of two X-linked syndromes occurring in one individual

Anjana Bhami Shenoy, Marta Biderman Waberski
Genetics in Medicine Open
Biochemical and Molecular Research
article

P495: Hunter syndrome and hemophilia A: A case of two X-linked syndromes occurring in one individual

Anjana Bhami Shenoy, Marta Biderman Waberski
article en

Abstract

Currently, the patient is treated with weekly infusions of Idursulfase (Elaprase), which is an enzyme replacement therapy for patients with Hunter syndrome, as well as Emicizumab (Hemlibra) for hemophilia A. A multidisciplinary team of specialists is involved in this patient’s care. He has received myringotomy tubes for recurrent ear infections and serial casting for hand, ankle, and elbow contractures.

Genetics in Medicine OpenVol. 3
Inova Children's Hospital (US)
Gender equality
Openalex Percentile: Top 96%
Biochemical and Molecular Research
DOIOpen Access PDFOpenAlex
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P495: Hunter syndrome and hemophilia A: A case of two X-linked syndromes occurring in one individual — Anjana Bhami Shenoy, Marta Biderman Waberski · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS