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Publications by Joana Rosa
Acrodermatitis Dysmetabolica as a Sign of Methylmalonic Aciduria Decompensation
Clinical Case Reports
Medicine
Related publications
Homocystinuria Without Methylmalonic Aciduria
Adult-Onset Combined Methylmalonic Aciduria and Homocystinuria (cblC)
Neurology
Neurology
Methylmalonic Aciduria and Vitamin B12 Deficiency in the Rat
Journal of Nutritional Science and Vitaminology
Medicine
Nutrition
Dietetics
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
Cloning and Expression of Mutations Demonstrating Intragenic Complementation in Mut0 Methylmalonic Aciduria.
Journal of Clinical Investigation
Medicine
Methylmalonic Aciduria. An Inborn Error of Metabolism Leading to Chronic Metabolic Acidosis.
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
Renal Involvement in a Patient With Cobalamin a Type (cblA) Methylmalonic Aciduria: A 42-Year Follow-Up
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Prospective Evaluation of Pregnancy Outcome in an Italian Woman With Late-Onset Combined Homocystinuria and Methylmalonic Aciduria
BMC Pregnancy and Childbirth
Gynecology
Obstetrics
Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
