Advanced Therapies Clinic

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Infants, children, adolescents and adults affected with lysosomal storage disease, mucopolysaccharidosis or select other rare genetic conditions receive comprehensive specialty care by our multidisciplinary Advanced Therapies Clinic team. Additional activities include clinical, academic and laboratory research, vigorous scientific collaborations, enzyme replacement therapy, and education of families, health care providers, medical students, residents and fellows regarding the evaluation and management of these rare genetic conditions.

Providers:

Providers:

Chester Whitley, PhD, MD

Medication Therapy Management:

Jeanine Utz, PharmD, BCOP, BCPS

Conditions we provide specialty care for (but not limited to):

• Fabry Disease
• Tay Sachs Disease
• Gaucher Disease
• mucopolysaccharidosis (MPS):
• MPS type I ; Hurler, Scheie, and Hurler-Scheie, syndromes
• MPS type II ; Hunter syndrome
• MPS type IIIA ; Sanfilippo syndrome type A
• MPS type IIIB ; Sanfilippo syndrome type B
  • NAGLU mutations
  • MPS IIIB genotype-phenotype correlations
• MPS type IIIC ; Sanfilippo syndrome type C
• MPS type IIID ; Sanfilippo syndrome type D
• MPS type IVA ; Morquio syndrome type A
• MPS type IVB ; Morquio syndrome type B
• MPS type VI ; Maroteaux-Lamy syndrome
• MPS type VII ; Sly syndrome
   

Physicians: