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Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation

, : Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation. Journal of Inherited Metabolic Disease 27(5): 685-686

We present a patient with MPS IH, homozygous for the W402X mutation. The patient was treated by bone marrow transplantation at age 14 months. The patient became pregnant at age 21 years. Because of concerns about her own health, the patient opted for a termination.


PMID: 15669685

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