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Publications by Marzia Pasquali

Mutations in ABCD4 Cause a New Inborn Error of Vitamin B12 Metabolism

Nature Genetics

English

Progressive Loss in Circulating Volume During Haemodialysis Can Be Monitored by Time Voltage Integral Area of QRS Complex: Pilot Study

Archives of Medical Science

English

Related publications

Clinical or ATPase Domain Mutations in ABCD4 Disrupt the Interaction Between the Vitamin B12-Trafficking Proteins ABCD4 and LMBD1

Journal of Biological Chemistry

Molecular Biology

English

Inborn Error of Metabolism –An Indian Perspective

International Journal of Human Genetics

English

Pharmacological Complementation Remedies an Inborn Error of Lipid Metabolism

English

Multiple Sclerosis and Vitamin B12 Metabolism.

Journal of Neurology, Neurosurgery and Psychiatry

English

Cyanide Metabolism and Vitamin B12 in Multiple Sclerosis.

Journal of Neurology, Neurosurgery and Psychiatry

English

Alzheimer’s Disease: Adult-Onset of Inborn Error of Methionine Metabolism

Journal of Parkinson’s Disease and Alzheimer’s Disease

English

Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism

Critical Reviews in Oncogenesis

English

Vitamin B12 Metabolism During Pregnancy and in Embryonic Mouse Models

English

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

Archives of Disease in Childhood

English