All Special Issues

Completed Special Issues

Topic: Advancements in Diagnosis and Treatment of Fabry Disease 1.0

Prof. Guillem Pintos-Morell; Prof. Derralynn Hughes

Published articles: 7 Read Online Viewed: Download Articles Viewed:

Topic: Newborn Screening I - Real World Applications and Technologies

Prof. David A Pearce; Dr. Virginie Bros-Facer

Published articles: 6 Read Online Viewed: Download Articles Viewed:

Topic: Newborn Screening II - Policy, Ethics and Patient Perspectives

Prof. David A Pearce; Dr. Helen Malherbe; Dr. Mary Wang

Published articles: 5 Read Online Viewed: Download Articles Viewed:

Topic: A Landscape Map of the Key Global Rare Disease Organisations

Dr. Daniel O'Connor; Dr. Anneliene H. Jonker

Published articles: 7 Read Online Viewed: Download Articles Viewed:

Topic: Neutrophil Serine Proteases in Rare Diseases

Dr. Brice Korkmaz

Published articles: 7 Read Online Viewed: Download Articles Viewed:

Ongoing Special Issues

Topic: Latest Advances in Primary Immunodeficiency Diseases

Prof. Siobhan Burns

Submission deadline: 30 Apr 2025

Published articles: 0

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Topic: Innovations in Gaucher Disease Research: Progress, Perspectives, and Promising Therapies

Neal J. Weinreb

Submission deadline: 20 Apr 2025

Published articles: 0

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Topic: Prader-Willi Syndrome: Clinical, Genetic, and Endocrine Research

Prof. Phillip D.K. Lee, MD

Submission deadline: 28 Feb 2025

Published articles: 1

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Topic: Advances in Neurofibromatosis - The Future is Bright

Prof. Allan E. Rubenstein; Gurcharanjeet Kaur, MD

Submission deadline: 28 Feb 2025

Published articles: 0

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Topic: Thalassemia: Progress in Research and Insights

Prof. Liye Yang

Submission deadline: 15 Jan 2025

Published articles: 0

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Topic: Advances in Mucopolysaccharidosis and Alpha Mannosidosis

Dr. Karolina Stepien; Dr. Iain Hargreaves; Dr. Chaitanya Gadepalli

Submission deadline: 31 Dec 2024

Published articles: 0

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Topic: Systemic Lupus Erythematosus: Early Diagnosis and Management Strategies

Prof. Yoshiya Tanaka, MD, PhD

Submission deadline: 31 Dec 2024

Published articles: 0

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Topic: Advancements in Myasthenia Gravis Research: New Horizons in Treatment

Prof. Chongbo Zhao; Prof. Yuzhou Guan

Submission deadline: 31 Dec 2024

Published articles: 0

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Closed Special Issues

Topic: Advancements in Diagnosis and Treatment of Familial Hypercholesterolemia

Mariko Harada-Shiba, Ph.D. M.D.; Hayato Tada, PhD. M.D

Submission deadline: 15 Dec 2024

Published articles: 0

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Topic: Recent Advances in the Treatment of Polycythemia Vera (PV)

Prof. Jean-Luc T WAUTIER

Submission deadline: 15 Dec 2024

Published articles: 0

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Topic: Duchenne Muscular Dystrophy (DMD): Progress in Research and Insights

Martin K. (Casey) Childers, PhD

Submission deadline: 30 Nov 2024

Published articles: 2

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Topic: Sickle Cell Disease(SCD): Progress in Research and Insights

Dr. Marina Cavazzana; Dr. Thiago Trovati MacIel

Submission deadline: 15 Nov 2024

Published articles: 0

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Topic: Advancements in Diagnosis and Treatment of Fabry Disease 2.0

Prof. Guillem Pintos-Morell; Prof. Derralynn Hughes

Submission deadline: 15 Oct 2024

Published articles: 2

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Topic: Treatment in Autism Spectrum Disorder

Prof. Antonio Persico

Submission deadline: 30 Jun 2024

Published articles: 5

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All Special Issues

Completed Special Issues

Topic: Advancements in Diagnosis and Treatment of Fabry Disease 1.0

Topic: Newborn Screening I - Real World Applications and Technologies

Topic: Newborn Screening II - Policy, Ethics and Patient Perspectives

Topic: A Landscape Map of the Key Global Rare Disease Organisations

Topic: Neutrophil Serine Proteases in Rare Diseases

Ongoing Special Issues

Topic: Latest Advances in Primary Immunodeficiency Diseases

Topic: Innovations in Gaucher Disease Research: Progress, Perspectives, and Promising Therapies

Topic: Prader-Willi Syndrome: Clinical, Genetic, and Endocrine Research

Topic: Advances in Neurofibromatosis - The Future is Bright

Topic: Thalassemia: Progress in Research and Insights

Topic: Advances in Mucopolysaccharidosis and Alpha Mannosidosis

Topic: Systemic Lupus Erythematosus: Early Diagnosis and Management Strategies

Topic: Advancements in Myasthenia Gravis Research: New Horizons in Treatment

Closed Special Issues

Topic: Advancements in Diagnosis and Treatment of Familial Hypercholesterolemia

Topic: Recent Advances in the Treatment of Polycythemia Vera (PV)

Topic: Duchenne Muscular Dystrophy (DMD): Progress in Research and Insights

Topic: Sickle Cell Disease(SCD): Progress in Research and Insights

Topic: Advancements in Diagnosis and Treatment of Fabry Disease 2.0

Topic: Treatment in Autism Spectrum Disorder

Committee on Publication Ethics

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Committee on Publication Ethics

Portico