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Found 79 publications

Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study.

A novel GHR-ALK fusion gene in a patient with metastatic lung adenocarcinoma and its response to crizotinib: a case report.

A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease.

The Tricky Trachea: Tracheitis and Mediastinitis Treated With Infliximab and Steroids in a Patient With Ulcerative Colitis.

Hepatic glycogen storage diseases: Symptoms, management and associated mutations.

The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.

Relapsing neuromyelitis optica in an adolescent girl.

A Multidisciplinary Approach for Tophi Wounds Caused by Glycogen Storage Disease Type 1a: A Rare Case.

Application of Patient-Specific iPSCs for Modelling and Treatment of X-Linked Cardiomyopathies.

Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.

An Update of the Histopathological Pattern of Liver Biopsies at the University of Benin Teaching Hospital.

Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report.

Showing 1-12 of 79