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Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?

  • Authors : Silva GD; Neuroimmunology Group, Division of Neurology, Hospital das Clinicas (HCFMUSP), Faculdade de Medicina, Universidade de Sao Paulo, São Paulo, Brazil.; Mahler JV

Subjects: Hereditary Autoinflammatory Diseases*/Hereditary Autoinflammatory Diseases*/Hereditary Autoinflammatory Diseases*/diagnosis ; Hereditary Autoinflammatory Diseases*/Hereditary Autoinflammatory Diseases*/Hereditary Autoinflammatory Diseases*/genetics ; Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/genetics

  • Source: BMC neurology [BMC Neurol] 2024 Apr 17; Vol. 24 (1), pp. 130. Date of Electronic Publication: 2024 Apr 17.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium:

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Academic Journal

Updates on the role of epigenetics in familial mediterranean fever (FMF).

  • Authors : Chaaban A; Department of Natural Sciences, School of Arts and Sciences, Lebanese American University (LAU), Beirut, Lebanon.; Salman Z

Subjects: Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/drug therapy; Humans ; Mutation/Mutation/Mutation/genetics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 26; Vol. 19 (1), pp. 90. Date of Electronic Publication: 2024 Feb 26.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Concurrence of familial Mediterranean fever and Behçet's disease: a case report and review of the literature.

  • Authors : Mir A; Department of Medicine, University of Ottawa, 501 Smyth Rd, Ottawa, ON, Canada.; Ivory C

Subjects: Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/complications ; Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/diagnosis ; Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/drug therapy

  • Source: Journal of medical case reports [J Med Case Rep] 2023 Oct 22; Vol. 17 (1), pp. 438. Date of Electronic Publication: 2023 Oct 22.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium:

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Academic Journal

Treat-to-target strategies for the management of familial Mediterranean Fever in children.

  • Authors : Ehlers L; Department of Paediatric Pulmonology, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Rolfes E

Subjects: Arthritis* ; Biological Products* ; Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/diagnosis

  • Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2023 Sep 26; Vol. 21 (1), pp. 108. Date of Electronic Publication: 2023 Sep 26.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium:

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Academic Journal

Is it possible to extend the dose interval of canakinumab treatment in children with familial Mediterranean fever? PeRA group experience.

  • Authors : Kavrul Kayaalp G; Department of Pediatric Rheumatology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Çağlayan Ş

Subjects: Familial Mediterranean Fever*/Familial Mediterranean Fever*/Familial Mediterranean Fever*/drug therapy; Humans ; Child

  • Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2023 Nov 23; Vol. 21 (1), pp. 140. Date of Electronic Publication: 2023 Nov 23.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium:

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Academic Journal

Familial dysalbuminemic hyperthyroxinemia combined with Graves' disease: a rare case report.

  • Authors : Li Y; Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.; State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

Subjects: Hyperthyroxinemia, Familial Dysalbuminemic*/Hyperthyroxinemia, Familial Dysalbuminemic*/Hyperthyroxinemia, Familial Dysalbuminemic*/diagnosis ; Thyroid Neoplasms* ; Graves Disease*/Graves Disease*/Graves Disease*/complications

  • Source: BMC endocrine disorders [BMC Endocr Disord] 2023 Oct 18; Vol. 23 (1), pp. 226. Date of Electronic Publication: 2023 Oct 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101088676 Publication Model: Electronic Cited Medium:

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Academic Journal

Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.

  • Authors : Ando Y; Department of Amyloidosis Research, Faculty of Pharmaceutical Sciences, Nagasaki International University, 2825-7 Huis Ten Bosch Machi, Sasebo City, Nagasaki, 859-3298, Japan. .; Waddington-Cruz M

Subjects: Prealbumin*/Prealbumin*/Prealbumin*/genetics ; Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/genetics ; Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/therapy Amyloidosis, Hereditary, Transthyretin-Related

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 12; Vol. 18 (1), pp. 323. Date of Electronic Publication: 2023 Oct 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.

  • Authors : Moreno-Gázquez I; Department of Clinical Biochemistry, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain. .; Basic Research in Internal Medicine Group, GIIS-084 (IIS Aragón), Zaragoza, Spain. .

Subjects: Prealbumin*/Prealbumin*/Prealbumin*/genetics ; Prealbumin*/Prealbumin*/Prealbumin*/metabolism ; Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/genetics Amyloidosis, Hereditary, Transthyretin-Related

  • Source: BMC research notes [BMC Res Notes] 2023 Oct 02; Vol. 16 (1), pp. 249. Date of Electronic Publication: 2023 Oct 02.Publisher: Biomed Central Country of Publication: England NLM ID: 101462768 Publication Model: Electronic Cited Medium:

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Academic Journal

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.

  • Authors : Ariceta G; Department of Pediatric Nephrology, Hospital Vall d'Hebron, Universitat Autonoma Barcelona, Barcelona, Spain. .; Beck-Nielsen SS

Subjects: Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/genetics ; Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/diagnosis ; Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/drug therapy

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 27; Vol. 18 (1), pp. 304. Date of Electronic Publication: 2023 Sep 27.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Extreme Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA): a discrete group of patients.

  • Authors : Broide M; Department of Pediatrics A, Schneider Children's Medical Center of Israel, Petach Tikva, Israel. .; Levinsky Y

Subjects: Stomatitis, Aphthous*/Stomatitis, Aphthous*/Stomatitis, Aphthous*/diagnosis ; Lymphadenitis*/Lymphadenitis*/Lymphadenitis*/complications ; Lymphadenitis*/Lymphadenitis*/Lymphadenitis*/diagnosis

  • Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2023 Sep 01; Vol. 21 (1), pp. 93. Date of Electronic Publication: 2023 Sep 01.Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium:

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  • 1-10 of  1,503 results for ""familial""