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Research article

First published 2025-3

Characterizing hepatic porphyria: Insights from a quaternary care hospital in Bogotá,Colombia (2013–2023)

María C Martínez-Ávila, Eugenio Matijasevic-Arcila, Stefania Pantoja-Chica [...]

Journal of International Medical Research

Free access

Case report

First published 2006-01

Dual porphyria with mutations in both the UROD and HMBS genes

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Retricted access

Review article

First published 2012-7

Acute Intermittent Porphyria

Elizabeth Anyaegbu, Michael Goodman, Sun-Young Ahn [...]

Journal of Child Neurology

Free access

Review article

First published 2016-5

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

Apostolos Papandreou, Paul Gissen

Therapeutic Advances in Neurological Disorders

Retricted access

Case report

First published 2025-10

Acute Hepatic Porphyria Presenting as Guillain-Barré Syndrome: Importance of Early Recognition and Screening

Kumar Porakapalli Yuvasai, Sanveer Singh, Pratiksha Jayant Pai [...]

The Neurohospitalist

Open access

Research article

First published 2015

Distinct Niemann-Pick Disease Type C Clinical,Cytological,and Biochemical Phenotype in an Adult Patient With 1 Mutated,Overexpressed NPC1 Allele

Julia Jecel, Klaus Harzer, Eduard Paschke [...]

Journal of Inborn Errors of Metabolism and Screening

Free access

Review article

First published 2013-5

Role of genetic testing in the management of patients with inherited porphyria and their families

S D Whatley, M N Badminton

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Free access

Review article

First published 2017-3

Best practice guidelines on first-line laboratory testing for porphyria

Jacqueline Woolf, Joanne T Marsden, Timothy Degg [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Open access

Case report

First published 2022

Lamellar Bodies in Podocytes Associated With Compound Heterozygous Mutations for Niemann Pick Type C1 Mimicking Fabry Disease,a Case Report

Pairach Pintavorn, Stephanie Munie, Sweta Munagapati

Canadian Journal of Kidney Health and Disease

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