Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Encarna Guillén-Navarro

High Penetrance of Acute Intermittent Porphyria in a Spanish Founder Mutation Population and CYP2D6 Genotype as a Susceptibility Factor

Orphanet Journal of Rare Diseases

English

Genetic Predisposition to Fetal Alcohol Syndrome: Association With Congenital Disorders of N-Glycosylation

Pediatric Research

English

Related publications

Tissue-Specific Splicing Mutation in Acute Intermittent Porphyria.

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

Multidisciplinary

English

Acute Intermittent Porphyria

JAMA - Journal of the American Medical Association

English

Acute Intermittent Porphyria in Childhood: A Neglected Diagnosis?

Archives of Disease in Childhood

English

Circadian Rhythms in Acute Intermittent Porphyria - A Pilot Study

European Journal of Clinical Investigation

Clinical Biochemistry

English

Acute Intermittent Porphyria Studies With Fibroblasts.

Journal of Clinical Pathology

Forensic Medicine

English

Acute Intermittent Porphyria and Phaeochromocytoma: Shared Features

Journal of Clinical Pathology

Forensic Medicine

English

Reversible Splenial Lesion Syndrome (RESLES) Due to Acute Intermittent Porphyria With a Novel Mutation in the Hydroxymethylbilane Synthase Gene

Orphanet Journal of Rare Diseases

English

Psychiatric Manifestations in Three Cases of Acute Intermittent Porphyria

Medical Journal Armed Forces India

English

Correction To: Medical and Financial Burden of Acute Intermittent Porphyria

Journal of Inherited Metabolic Disease

English