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glycogen storage disease type ii/diare
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Pompe Disease: Cyanosed Hypotonic Infant with Normal Respiratory Rate.
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Infantile hypotonia or floppy infant is a diagnostic challenge when it presents with other presenting complaints such as fever, cough or diarrhea. Many times the hypotonia goes unnoticed when other symptom covers the hypotonia and child continues to receive the treatment for other symptoms. We
Clostridium difficile cure with fecal microbiota transplantation in a child with Pompe disease: a case report.
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BACKGROUND
Recurrent Clostridium difficile infection is a growing problem among children due to both the increasing survival of medically fragile children with complicated chronic medical conditions resulting in prolonged antibiotic exposure and hospitalization and the emergence of strains of
Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients.
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Pompe disease is a lysosomal storage disease due to deficient acid α-glucosidase (GAA) activity. Infants with the classic infantile-onset subtype present with severe hypotonia and cardiomegaly, and most expire in the first year of life, whereas the severity of the muscle-based manifestations in
Small intestinal glucoamylase deficiency and starch malabsorption: a newly recognized alpha-glucosidase deficiency in children.
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To determine the prevalence of short polymers of glucose and starch malabsorption caused by small intestinal glucoamylase deficiency in children with chronic diarrhea, we studied small bowel biopsy specimens from 511 children (aged 1 month to 9 years) with chronic diarrhea evaluated at 54 medical
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