Results 111 to 120 of about 32,645 (198)

Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes. [PDF]

Diabetes
Bonfield G, Russ-Silsby J, Ramchand S, Luckett AM, Wakeling MN, Kulkarni A, Nagesh VS, Deeb A, Ravikumar KG, Nguyen PTK, Hattersley AT, Oram RA, Flanagan SE, De Franco E, Johnson MB, EXE-T1D Consortium* .   +15 more
europepmc   +1 more source

Bilateral Adrenal Calcifications as an Imaging Clue to Wolman Disease in Early Infancy: A Case Report. [PDF]

Cureus
Niño JC, Caicedo CA, Cárdenas J.
europepmc   +1 more source

Primary (AL) Amyloidosis Following COVID-19 Infection: A Case Report. [PDF]

Clin Case Rep
Gholami N, Tahsini Tekantapeh S, Khalaji A, Nejati B, Ravaei G.   +4 more
europepmc   +1 more source

Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated. [PDF]

Front Immunol
Xue S, Shi W, He X, Hao L.
europepmc   +1 more source

Kaposi Sarcoma Presenting as Hemophagocytic Lymphohistiocytosis Mimicking Infection and Lymphoma: A Diagnostic Challenge. [PDF]

Cureus
Cavdar VC, Kaya Ç, Heydari A, Chatzi Chasan CC, Satilmisoglu A, Gökmen Y, Akbas F, Özdemir G, Erdem Huq G, Kaya ES, Dincer ZT, Gulturk I, Karismaz K, Sadri S.   +13 more
europepmc   +1 more source

When Blasts Speak Louder Than Flow: A Diagnostic Challenge in Suspected Hematologic Malignancy. [PDF]

Cureus
Izadian Bidgoli A, Gomez Veliz A, Vermejo Blumen M, Noriega-Toledo D.   +3 more
europepmc   +1 more source

Severe Babesiosis With Lyme Disease and Anaplasma Phagocytophilum Coinfection in a Dialysis-Dependent Patient Without Rash or Organomegaly. [PDF]

Cureus
Raja M, Sharma S.
europepmc   +1 more source

Clinical Images: Thrombocytopenia, anasarca, fever, reticulin fibrosis, and organomegaly syndrome presenting as bilateral adrenal hemorrhage. [PDF]

ACR Open Rheumatol
Itagane M, Kinjo M.
europepmc   +1 more source

Visceral Leishmaniasis in Somalia: Diagnosis and Management of a Classic Case in a Resource-Limited Endemic Setting. [PDF]

Clin Case Rep
Hussein AN, Ali AO, Ahmed RZ, Abdirahman SM, Abdiwahab AD.   +4 more
europepmc   +1 more source

Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study. [PDF]

Orphanet J Rare Dis
Swanepoel AC, Hendriksz CJ, Mukhwana R, Oduwole A, Abdalla AT, Ameyaw E, Muze KC, Auruku A, Pinto F, Joel D, Aleksovska V, Collin-Histed T, Odero R, Conradie EH.   +13 more
europepmc   +1 more source