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Publications by S Dimauro

Heterogeneity of the Molecular Lesions in Inherited Phosphofructokinase Deficiency.

Journal of Clinical Investigation

English

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Clinical and Molecular Heterogeneity of RTEL1 Deficiency

Frontiers in Immunology

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Molecular Basis of Inherited Disease

Journal of Clinical Pathology

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Molecular Cloning of Equine Muscle-Type Phosphofructokinase cDNA

Journal of Veterinary Medical Science

English

A New Type of Skeletal Muscle Glycogenosis Due to Phosphofructokinase Deficiency

Proceedings of the Japan Academy

English

Inherited Glycosylphosphatidyl Inositol Deficiency: A Treatable CDG

Biochimica et Biophysica Acta - Molecular Basis of Disease

Molecular Medicine

Molecular Biology

English

Molecular Genetics of Human Inherited Disease

Journal of Medical Genetics

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Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

Frontiers in Neurology

English

Vitamin B6-Responsive Epilepsy Due to Inherited GPI Deficiency

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Greater Replication and Differentiation of Preadipocytes in Inherited Corticosteroid-Binding Globulin Deficiency

American Journal of Physiology - Endocrinology and Metabolism

English