Early Onset, But Late Diagnosis of a Rare Disease

Pamela Farah;  ; Pascale Daniel; Georges El Khoury; Rami El Rachkidi; Aline Tohme;  ;  ;  ;

doi:10.17140/imoj-3-108

Early Onset, But Late Diagnosis of a Rare Disease

Internal Medicine - Open Journal ◽

10.17140/imoj-3-108 ◽

2019 ◽

Vol 3 (1) ◽

pp. 1-3

Author(s):

Pamela Farah ◽

◽

Pascale Daniel ◽

Georges El Khoury ◽

Rami El Rachkidi ◽

...

Keyword(s):

Rare Disease ◽

Early Onset ◽

Late Diagnosis

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Perianal tuberculosis: A rare disease of late diagnosis

Journal of Coloproctology ◽

10.1016/j.jcol.2014.03.002 ◽

2014 ◽

Vol 34 (2) ◽

pp. 124-127 ◽

Cited By ~ 2

Author(s):

Isaac José Felippe Corrêa Neto ◽

Otávio Nunes Siá ◽

Eduardo Augusto Lopes ◽

Rodrigo Luiz Macacari ◽

Hugo Henriques Watté ◽

...

Keyword(s):

Rare Disease ◽

Late Diagnosis

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Late diagnosis of a rare disease

BMJ Case Reports ◽

10.1136/bcr.07.2008.0386 ◽

2009 ◽

Vol 2009 (apr07 2) ◽

pp. bcr0720080386-bcr0720080386 ◽

Cited By ~ 2

Author(s):

N. M. E. Hossainy

Keyword(s):

Rare Disease ◽

Late Diagnosis

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Prader–Willi syndrome and early‐onset morbid obesity NIH rare disease consortium: A review of natural history study

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.38582 ◽

2017 ◽

Vol 176 (2) ◽

pp. 368-375 ◽

Cited By ~ 14

Author(s):

Merlin G. Butler ◽

Virginia Kimonis ◽

Elisabeth Dykens ◽

June A. Gold ◽

Jennifer Miller ◽

...

Keyword(s):

Morbid Obesity ◽

Natural History ◽

Rare Disease ◽

Early Onset ◽

Prader Willi Syndrome ◽

Natural History Study

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Unexpected condition in a rare disease: encephalopathy in early-onset sarcoidosis

The Turkish Journal of Pediatrics ◽

10.24953/turkjped.2021.02.018 ◽

2021 ◽

Vol 63 (2) ◽

pp. 323

Author(s):

Nihal Şahin ◽

Sümeyra Özdemir Çiçek ◽

Ayşenur Paç Kısaarslan ◽

Zübeyde Gündüz ◽

Muammer Hakan Poyrazoğlu ◽

...

Keyword(s):

Rare Disease ◽

Early Onset ◽

Early Onset Sarcoidosis

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B-PO05-026 AGE-RELATED PREVALENCE OF RARE DISEASE-ASSOCIATED VARIANTS IN 1293 PATIENTS WITH EARLY-ONSET ATRIAL FIBRILLATION

Heart Rhythm ◽

10.1016/j.hrthm.2021.06.946 ◽

2021 ◽

Vol 18 (8) ◽

pp. S381-S382

Author(s):

Zachary Yoneda ◽

Katherine C. Anderson ◽

Joseph A. Quintana ◽

Matthew J. O'Neill ◽

Andrew M. Glazer ◽

...

Keyword(s):

Atrial Fibrillation ◽

Rare Disease ◽

Early Onset ◽

Age Related ◽

Onset Atrial Fibrillation

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Late Diagnosis of Interrupted Aortic Arch With Massive Collateral Circulation in a Former Competitive Athlete With Early-Onset Hypertension

Circulation Cardiovascular Imaging ◽

10.1161/circimaging.120.010818 ◽

2021 ◽

Vol 14 (2) ◽

Author(s):

Guido Carlomagno ◽

Michele Altiero ◽

Fabio Ferrara ◽

Mariateresa Librera ◽

Giuseppina Dell’Aversano Orabona ◽

...

Keyword(s):

Aortic Arch ◽

Early Onset ◽

Collateral Circulation ◽

Interrupted Aortic Arch ◽

Late Diagnosis ◽

Competitive Athlete

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Difficulties in Goodpasture's syndrome diagnosing

Terapevticheskii arkhiv ◽

10.26442/00403660.2019.03.000044 ◽

2019 ◽

Vol 91 (3) ◽

pp. 64-67 ◽

Cited By ~ 1

Author(s):

V I Podzolkov ◽

G K Makhnach ◽

T I Ishina ◽

A B Ponomarev ◽

I D Medvedev

Keyword(s):

Basement Membrane ◽

Rare Disease ◽

Glomerular Basement Membrane ◽

Clinical Case ◽

Progressive Disease ◽

Pulmonary Hemorrhage ◽

Late Diagnosis ◽

Diagnosis And Treatment ◽

Goodpasture's Syndrome ◽

Goodpasture’S Syndrome

The article analyzes the diagnosis and treatment of anti-GBM antibody disease (Goodpasture's syndrome) - a rare, severe progressive disease, associated with anti-glomerular basement membrane antibody-induced pulmonary hemorrhage and glomerulonephritis. The main problem of this pathology is late diagnosis, resulted in ineffective treatment. The article provides current information on the epidemiology, etiology and pathogenesis, diagnosis, and treatment of Goodpasture’s syndrome, as well as clinical case of a patient with this rare disease.

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