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Publications by De-Ann M Pillers

Potential for Misdiagnosis Due to Lack of Metabolic Derangement in Combined Methylmalonic Aciduria/Hyperhomocysteinemia (cblC) in the Neonate

Journal of Perinatology

English

Related publications

Adult-Onset Combined Methylmalonic Aciduria and Homocystinuria (cblC)

English

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

Archives of Disease in Childhood

English

Homocystinuria Without Methylmalonic Aciduria

English

Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. I. Clinical Presentations, Diagnosis and Management

Journal of Inherited Metabolic Disease

English

Methylmalonic Aciduria and Vitamin B12 Deficiency in the Rat

Journal of Nutritional Science and Vitaminology

English

Prospective Evaluation of Pregnancy Outcome in an Italian Woman With Late-Onset Combined Homocystinuria and Methylmalonic Aciduria

BMC Pregnancy and Childbirth

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

Acrodermatitis Dysmetabolica as a Sign of Methylmalonic Aciduria Decompensation

Clinical Case Reports

English

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

Journal of Clinical Investigation

English