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Select item 108285041.

New orphan disease therapies from the proteome of industrial plasma processing waste- a treatment for aceruloplasminemia

Alan Zanardi, Ilaria Nardini, Sara Raia, Antonio Conti, Barbara Ferrini, Patrizia D’Adamo, Enrica Gilberti, Giuseppe DePalma, Sara Belloli, Cristina Monterisi, Angela Coliva, Paolo Rainone, Rosa Maria Moresco, Filippo Mori, Giada Zurlo, Carla Scali, Letizia Natali, Annalisa Pancanti, Pierangelo Giovacchini, Giulio Magherini, Greta Tovani, Laura Salvini, Vittoria Cicaloni, Cristina Tinti, Laura Tinti, Daniele Lana, Giada Magni, Maria Grazia Giovannini, Alessandro Gringeri, Andrea Caricasole, Massimo Alessio

Commun Biol. 2024; 7: 140. Published online 2024 Jan 30. doi: 10.1038/s42003-024-05820-7

PMCID:: PMC10828504

Abstract Article PDF–3.6M

Select item 107893952.

Aceruloplasminemia with Novel Mutation, with IgG4 Related Pachymeningitis – Occam's Razor or Hickam's Dictum?

Sai D. Yaranagula, Neeharika L. Mathukumalli, Sruthi Kola, Rukmini M. Kandadai, Vanakuru Prasad, Rajesh Alugolu, Rupam Borgohain

Ann Indian Acad Neurol. 2023 Nov-Dec; 26(6): 994–996. Published online 2023 Oct 5. doi: 10.4103/aian.aian_455_23

PMCID:: PMC10789395

Abstract Article PDF–1.2M

Select item 101213633.

ASYMPTOMATIC OCULAR MANIFESTATIONS OF ACERULOPLASMINEMIA IN TWO ADULT WHITE SIBLINGS: A MULTIMODAL IMAGING APPROACH

Olga Furashova, Stefan Mielke, Uwe Lindner

Retin Cases Brief Rep. 2023 May; 17(3): 273–278. Published online 2021 May 17. doi: 10.1097/ICB.0000000000001166

PMCID:: PMC10121363

Abstract Article PDF–769K

Select item 95187344.

Brain iron accumulation on MRI revealing aceruloplasminemia: a rare cause of simultaneous brain and systemic iron overload

Firdaous Touarsa, Daoud Ali Mohamed, Behyamet Onka, Soufiane Rostoum, Najwa Ech-Cherif El Kettani, Meriem Fikri, Mohamed Jiddane

BJR Case Rep. 2022 Sep 12; 8(5): 20220035. Published online 2022 Sep 12. doi: 10.1259/bjrcr.20220035

PMCID:: PMC9518734

Abstract Article PDF–853K

Select item 91084945.

A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report

Hervé Lobbes, Quitterie Reynaud, Sabine Mainbourg, Claire Savy-Stortz, Martine Ropert, Edouard Bardou-Jacquet, Stéphane Durupt

Front Neurosci. 2022; 16: 906360. Published online 2022 May 2. doi: 10.3389/fnins.2022.906360

PMCID:: PMC9108494

Abstract Article PDF–461K

Select item 89184796.

Dementia as a core clinical feature of a patient with aceruloplasminemia

Farzad Ashrafi, Mehri Salari, Fatemeh Nouri, Fatemeh Shiravi

Clin Case Rep. 2022 Mar; 10(3): e05581. Published online 2022 Mar 13. doi: 10.1002/ccr3.5581

PMCID:: PMC8918479

Abstract Article PDF–335K

Select item 80557147.

Quantification of different iron forms in the aceruloplasminemia brain to explore iron-related neurodegeneration

Lena H.P. Vroegindeweij, Lucia Bossoni, Agnita J.W. Boon, J.H. Paul Wilson, Marjolein Bulk, Jacqueline Labra-Muñoz, Martina Huber, Andrew Webb, Louise van der Weerd, Janneke G. Langendonk

Neuroimage Clin. 2021; 30: 102657. Published online 2021 Apr 3. doi: 10.1016/j.nicl.2021.102657

PMCID:: PMC8055714

Abstract Article PDF–5.1M

Select item 79764938.

MR Imaging of Cerebral Cortical Involvement in Aceruloplasminemia

Marina Grisoli, Alberto Piperno, Luisa Chiapparini, Raffaella Mariani, Mario Savoiardo

AJNR Am J Neuroradiol. 2005 Mar; 26(3): 657–661.

PMCID:: PMC7976493

Abstract Article PDF–173K

Select item 77557229.

Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation

Chimaobi M Anugwom, Carlos G Moscoso, Nicholas Lim, Mohamed Hassan

Cureus. 2020 Nov; 12(11): e11648. Published online 2020 Nov 23. doi: 10.7759/cureus.11648

PMCID:: PMC7755722

Abstract Article PDF–541K

Select item 743454710.

Deferasirox Might Be Effective for Microcytic Anemia and Neurological Symptoms Associated with Aceruloplasminemia: A Case Report and Review of the Literature

Zenshi Miyake, Kiyotaka Nakamagoe, Kunihiro Yoshida, Tadashi Kondo, Akira Tamaoka

Intern Med. 2020 Jul 15; 59(14): 1755–1761. Published online 2020 Apr 2. doi: 10.2169/internalmedicine.4178-19

PMCID:: PMC7434547

Abstract Article PDF–3.5M

Select item 718369611.

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Lena H. P. Vroegindeweij, Agnita J. W. Boon, J. H. Paul Wilson, Janneke G. Langendonk

Orphanet J Rare Dis. 2020; 15: 105. Published online 2020 Apr 25. doi: 10.1186/s13023-020-01385-w

PMCID:: PMC7183696

Abstract Article PDF–550K

Select item 717807412.

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis

Marc Vila Cuenca, Giacomo Marchi, Anna Barqué, Clara Esteban-Jurado, Alessandro Marchetto, Alejandro Giorgetti, Viorica Chelban, Henry Houlden, Nicholas W Wood, Chiara Piubelli, Marina Dorigatti Borges, Dulcinéia Martins de Albuquerque, Kleber Yotsumoto Fertrin, Ester Jové-Buxeda, Jordi Sanchez-Delgado, Neus Baena-Díez, Birute Burnyte, Algirdas Utkus, Fabiana Busti, Gintaras Kaubrys, Eda Suku, Kamil Kowalczyk, Bartosz Karaszewski, John B. Porter, Sally Pollard, Perla Eleftheriou, Patricia Bignell, Domenico Girelli, Mayka Sanchez

Int J Mol Sci. 2020 Apr; 21(7): 2374. Published online 2020 Mar 30. doi: 10.3390/ijms21072374

PMCID:: PMC7178074

Abstract Article PDF–1.1M

Select item 646056713.

Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis

Giacomo Marchi, Fabiana Busti, Acaynne Lira Zidanes, Annalisa Castagna, Domenico Girelli

Front Neurosci. 2019; 13: 325. Published online 2019 Apr 5. doi: 10.3389/fnins.2019.00325

PMCID:: PMC6460567

Abstract Article PDF–1.9M

Select item 629032514.

Aceruloplasminemia: Waiting for an Efficient Therapy

Alberto Piperno, Massimo Alessio

Front Neurosci. 2018; 12: 903. Published online 2018 Dec 4. doi: 10.3389/fnins.2018.00903

PMCID:: PMC6290325

Abstract Article PDF–532K

Select item 619160415.

Aceruloplasminemia with Abnormal Compound Heterozygous Mutations Developed Neurological Dysfunction during Phlebotomy Therapy

Maki Watanabe, Ken Ohyama, Masashi Suzuki, Yasunobu Nosaki, Takashi Hara, Katsushige Iwai, Satoshi Kono, Hiroaki Miyajima, Kenji Mokuno

Intern Med. 2018 Sep 15; 57(18): 2713–2718. Published online 2018 Apr 27. doi: 10.2169/internalmedicine.9855-17

PMCID:: PMC6191604

Abstract Article PDF–1.2M

Select item 606470616.

Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene

Ayako Yamamura, Yoshitaka Kikukawa, Kenji Tokunaga, Eiko Miyagawa, Shinya Endo, Hirosada Miyake, Hiroyuki Hata, Hiroaki Mitsuya, Kunihiro Yoshida, Masao Matsuoka

Intern Med. 2018 Jul 1; 57(13): 1905–1910. Published online 2018 Feb 9. doi: 10.2169/internalmedicine.9496-17

PMCID:: PMC6064706

Abstract Article PDF–3.7M

Select item 576085617.

Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia

Alan Zanardi, Antonio Conti, Marco Cremonesi, Patrizia D'Adamo, Enrica Gilberti, Pietro Apostoli, Carlo Vittorio Cannistraci, Alberto Piperno, Samuel David, Massimo Alessio

EMBO Mol Med. 2018 Jan; 10(1): 91–106. Published online 2017 Nov 28. doi: 10.15252/emmm.201708361

PMCID:: PMC5760856

Abstract Article PDF–1.0M

Select item 545792418.

The Resection of Thyroid Cancer Was Associated with the Resolution of Hyporesponsiveness to an Erythropoiesis-stimulating Agent in a Hemodialysis Patient with Aceruloplasminemia

Soichiro Nagata, Naoki Ikegaya, Shuhei Ogino, Shinichi Uchida, Mikiko Itaya, Aoi Momita, Shingo Shinozaki, Masaharu Ohura, Ken Kuriki, Satoshi Kono, Hiroaki Miyajima, Akira Hishida

Intern Med. 2017 Apr 1; 56(7): 805–810. doi: 10.2169/internalmedicine.56.7455

PMCID:: PMC5457924

Abstract Article PDF–738K

Select item 490250519.

Aceruloplasminemia With Psychomotor Excitement and Neurological Sign Was Improved by Minocycline (Case Report)

Maiko Hayashida, Sadayuki Hashioka, Hiroyuki Miki, Michiharu Nagahama, Rei Wake, Tsuyoshi Miyaoka, Jun Horiguchi

Medicine (Baltimore) 2016 May; 95(19): e3594. Published online 2016 May 13. doi: 10.1097/MD.0000000000003594

PMCID:: PMC4902505

Abstract Article PDF–12M

Select item 408997820.

Aceruloplasminemia: Retinal Histopathology and Iron-mediated Melanosome Degradation

Natalie Wolkow, Ying Song, Ting-Di Wu, Jiang Qian, Jean-Luc Guerquin-Kern, Joshua L. Dunaief

Arch Ophthalmol. Author manuscript; available in PMC 2014 Jul 9.

Published in final edited form as: Arch Ophthalmol. 2011 Nov; 129(11): 1466–1474. doi: 10.1001/archophthalmol.2011.309

PMCID:: PMC4089978

Abstract Article PDF–7.1M

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