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Publications by P Kishnani

Hepatic and Neuromuscular Forms of Glycogen Storage Disease Type IV Caused by Mutations in the Same Glycogen-Branching Enzyme Gene.

Journal of Clinical Investigation
Medicine
1996English

Double Mutant Fibrillin-1 (FBN1) Allele in a Patient With Neonatal Marfan Syndrome.

Journal of Medical Genetics
Genetics
1996English

Development of a Disease Severity Scoring System for Patients With Pompe Disease

Pediatric Rheumatology
ImmunologyPediatricsRheumatologyAllergyPerinatologyChild Health
2008English

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