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A 8-month-old boy is evaluated for developmental delay

Business Nov 17, 2022

A 8-month-old boy is evaluated for developmental delay. The mother reports that her son does not crawl like other children his age. In addition, she has noted a distortion of his facial bones over the past few months. The baby has had five upper respiratory infections since birth. On examination, he has an enlarged skull, wide nasal bridge, and flattened midface. Examination of the eyes reveals corneal clouding. Skeletal anomalies are identified by X-ray. Fibroblasts from the child reveal intracellular inclusions. Genetic analysis finds no mutations of genes encoding for lysosomal enzymes. The majority of lysosomal enzymes in this boy are likely to be found in which of the following locations? (A) Nucleus (B) Cytoplasm (C) Rough endoplasmic reticulum (D) Golgi apparatus (E) Extracellular space.

 

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