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Publications in Internal Medicine

The Lysosomal Diseases Testing Laboratory: A Review of the Past 47 Years

Internal Medicine

Molecular Biology

English

Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients With MPS VI

Internal Medicine

Molecular Biology

English

Association of Acromegaly and Multiple Myeloma: A Case Report

Turkish Journal of Endocrinology and Metabolism

Internal Medicine

English

Quality of Life in Adult Patients With Glycogen Storage Disease Type I: Results of a Multicenter Italian Study

Internal Medicine

Molecular Biology

English

Meteorin-Like Facilitates Skeletal Muscle Repair Through a Stat3/Igf-1 Mechanism

Nature Metabolism

Internal Medicine

English

Metabolic Clinic Atlas: Organization of Care for Children With Inherited Metabolic Disease in Canada

Internal Medicine

Molecular Biology

English

Clinical Course in a Patient With Myopathic VLCAD Deficiency During Pregnancy With an Affected Baby

Internal Medicine

Molecular Biology

English

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient With Twinkle Variants

Internal Medicine

Molecular Biology

English

A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria

Internal Medicine

Molecular Biology

English

Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion

Internal Medicine

Molecular Biology

English