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Publications by N V Matiaszuk

Cloning and Expression of Mutations Demonstrating Intragenic Complementation in Mut0 Methylmalonic Aciduria.

Journal of Clinical Investigation

English

Related publications

Homocystinuria Without Methylmalonic Aciduria

English

Methylmalonic Aciduria and Vitamin B12 Deficiency in the Rat

Journal of Nutritional Science and Vitaminology

English

Adult-Onset Combined Methylmalonic Aciduria and Homocystinuria (cblC)

English

Acrodermatitis Dysmetabolica as a Sign of Methylmalonic Aciduria Decompensation

Clinical Case Reports

English

Combined Malonic and Methylmalonic Aciduria: Exome Sequencing Reveals Mutations in the ACSF3 Gene in Patients With a Non-Classic Phenotype

Journal of Medical Genetics

English

A G-Protein Editor Gates Coenzyme B12 Loading and Is Corrupted in Methylmalonic Aciduria

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Intragenic Complementation at the Human Argininosuccinate Lyase Locus

Journal of Biological Chemistry

Molecular Biology

English

Argininosuccinate Lyase and Δ II Crystallin: Intragenic Complementation and Catalysis

Acta Crystallographica Section A Foundations of Crystallography

English

Methylmalonic Aciduria. An Inborn Error of Metabolism Leading to Chronic Metabolic Acidosis.

Archives of Disease in Childhood

English