Patient Management and Therapy 

Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier

• Consult the Pubmed abstract

• Blood. 2019 Jun 6;133(23):2478-2483

Congenital hemoglobinopathies and chronic iron overload: An overview of the efficacy and safety of deferiprone in paediatric patients

• Consult the Pubmed abstract

• To read more about “Genetic hemoglobinopathy”

• Expert Opinion on Orphan Drugs, 7:4, 181-197

Messenger RNA therapy for rare genetic metabolic diseases

• Consult the Pubmed abstract

• Gut. 2019 Jul;68(7):1323-1330

Congenital thrombotic thrombocytopenic purpura : Review of characterization and treatment

• Consult the Pubmed abstract

• To read more about “Congenital thrombotic thrombocytopenic purpura”

• Blood. 2019 Apr 11;133(15):1644-1651

Fostamatinib for the treatment of chronic immune thrombocytopenia.

• Consult the Pubmed abstract

• To read more about “Autoimmune thrombocytopenia”

• Blood. 2019 May 9;133(19):2027-2030

Acromegaly : How to position pasireotide LAR treatment

• Consult the Pubmed abstract

• To read more about “Acromegaly”

• J Clin Endocrinol Metab. 2019 Jun 1;104(6):1978-1988

von Willebrand disease : A review of advances in diagnosis

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• To read more about “Von Willebrand disease”

• J Clin Endocrinol Metab. 2019 Jun 1;104(6):1978-1988

Current challenges in the management of patients with Sickle cell disease : A report of the Italian experience.

• Consult the Pubmed abstract

• To read more about “Sickle cell anemia”

• Orphanet J Rare Dis. 2019 May 30;14(1):120

Jalili syndrome : A systematic review of features, genetics and their correlation

• Consult the Pubmed abstract

• To read more about “Jalili syndrome”

• J Med Genet. 2019 Jun;56(6):358-369

Epidermolysis bullosa : Gene therapy approaches

• Consult the Pubmed abstract

• To read more about “Epidermolysis bullosa simplex”
• To read more about “Epidermolysis bullosa simplex”

• Clin Dermatol. 2005 Jul-Aug;23(4):430-6

Rendu-Osler-Weber disease: a gastroenterologist’s perspective

• Consult the Pubmed abstract

• To read more about “Hereditary hemorrhagic telangiectasia”

Small vessel disease: mechanisms and clinical implications

• To read more about “Cutaneous small vessel vasculitis”

• Lancet Neurol. 2019 Jul;18(7):684-696

TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.

• Consult the Pubmed abstract

• To read more about “TARP syndrome”

• Eur J Med Genet. 2019 Jun;62(6):103534

Novel paradigms in systemic lupus erythematosus

• Consult the Pubmed abstract

• To read more about “Systemic lupus erythematosus”

• Lancet. 2019 Jun 8;393(10188):2344-2358

POEMS Syndrome: 2019 Update on diagnosis, risk-stratification, and management

• Consult the Pubmed abstract

• To read more about “POEMS syndrome”

• Am J Hematol. 2019 Jul;94(7):812-827

Use of wearable activity trackers to improve physical activity behavior in patients with rheumatic and musculoskeletal diseases: A systematic review and meta-analysis.

• Consult the Pubmed abstract

• Arthritis Care Res (Hoboken). 2019 Jun;71(6):758-767

From basic visual science to neurodevelopmental disorders: The voyage of environmental enrichment-like stimulation

• Consult the Pubmed abstract

• Neural Plast. 2019; 2019: 5653180

How I treat chronic myeloid leukemia in children and adolescents

• Consult the Pubmed abstract

• To read more about “Chronic myeloid leukemia”

• Blood. 2019 May 30;133(22):2374-2384

Mantle cell lymphoma: 2019 update on the diagnosis, pathogenesis, prognostication, and management

• Consult the Pubmed abstract

• To read more about “Mantle cell lymphoma”

• Am J Hematol. 2019 Jun;94(6):710-725