Constitutional PIGA Mutations Cause a Novel Subtype of Hemochromatosis in Patients with Neurologic Dysfunction

Overview

Journal Blood

Publisher Elsevier

Specialty Hematology

Date 2021 Dec 7

PMID 34875027

Citations 5

Authors

Lena Muckenthaler

Oriana Marques

Silvia Colucci

Joachim Kunz

Piotr Fabrowski

Thomas Bast

Sandro Altamura

Britta Hochsmann

Hubert Schrezenmeier

Monika Langlotz

Paulina Richter-Pechanska

Tobias Rausch

Nicole Hofmeister-Mielke

Nikolas Gunkel

Matthias W Hentze

Andreas E Kulozik

Martina U Muckenthaler

Affiliations

Soon will be listed here.

Citing Articles

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Diagnosis and management of hereditary hemochromatosis: lifestyle modification, phlebotomy, and blood donation.

Girelli D, Marchi G, Busti F Hematology Am Soc Hematol Educ Program. 2024; 2024(1):434-442.

PMID: 39644049 PMC: 11665571. DOI: 10.1182/hematology.2024000568.

Promise of gene therapy for congenital neurologic disease due to GPI deficiency.

Babushok D, Sabatino D Mol Ther Methods Clin Dev. 2024; 32(2):101240.

PMID: 38572066 PMC: 10988122. DOI: 10.1016/j.omtm.2024.101240.

Mechanisms controlling cellular and systemic iron homeostasis.

Galy B, Conrad M, Muckenthaler M Nat Rev Mol Cell Biol. 2023; 25(2):133-155.

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Interpreting Iron Homeostasis in Congenital and Acquired Disorders.

Scaramellini N, Fischer D, Agarvas A, Motta I, Muckenthaler M, Mertens C Pharmaceuticals (Basel). 2023; 16(3).

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