Results 91 to 100 of about 1,450 (179)

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

, 2017
Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York ...
Bas Vroling, Ferlini, Alessandra, Kate Bushby, Evangelista, Teresinha, Barresi, Rita, Hanns Lochmüller, Töpf, Ana, Volker Straub, Ana Töpf, Marcella Neri, Rita Barresi, Scotton, Chiara, Elizabeth Harris, Polvikoski, Tuomo, Judith Hudson, Chiara Marini-Bettolo, Umar Burki, Marini-Bettolo, Chiara, Vroling, Bas, Mark Roberts, Harris, Elizabeth, Burki, Umar, Roberts, Mark, Bushby, Kate, Tuomo Polvikoski, Alessandra Ferlini, McArthur, Daniel, Marta Bertoli, Straub, Volker, Chiara Scotton, Daniel McArthur, Teresinha Evangelista, Bertoli, Marta, Hudson, Judith, Neri, Marcella, Lochmüller, Hanns   +35 more
core   +1 more source

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

, 2017
\ua9 2017 Elsevier B.V. Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, hypocalcaemia and bleeding diathesis), and a platelet ...
Scotton C, Bushby K, Barresi R, Neri M, Lochmuller H, Burki U, Marini-Bettolo C, Topf A, Bertoli M, Vroling B, Ferlini A, Harris E, Roberts M, Straub V, Evangelista T, Polvikoski T, Hudson J, McArthur D   +17 more
core   +1 more source

PB2216: VACUOLES APPEAR IN RED BLOOD CELLS TRANSFUSED TO PATIENTS WITH SICKLE CELL DISEASE-RELATED HYPOSPLENISM

HemaSphere, 2022
L. Dumas, A. Sissoko, A. Fricot, N. Salama, L. Joseph, S. Manceau, S. Dokmak, A. Michel, B. Maitre, C. Gachet, M. Cavazzana, C. Roussel, P. Buffet   +12 more
doaj   +1 more source

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome

JCI Insight
Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) are clinically overlapping disorders characterized by childhood-onset muscle weakness and a variable occurrence of multisystemic signs, including short stature, thrombocytopenia, and ...
Roberto Silva-Rojas, Laura Pérez-Guàrdia, Alix Simon, Sarah Djeddi, Susan Treves, Agnès Ribes, Lorenzo Silva-Hernández, Céline Tard, Jocelyn Laporte, Johann Böhm   +9 more
doaj   +1 more source

Hyposplenism and streptococcal sepsis [PDF]

Postgraduate Medical Journal, 1991
A Schattner, H Schmilovitz, S Malnick
openaire   +1 more source

Hyposplenism in gastrointestinal disease. [PDF]

Gut, 1995
A F, Muller, P J, Toghill
openaire   +2 more sources

Probable Acquired Autosplenectomy in Systemic Lupus Erythematosus and Sjögren's Overlap Syndrome: A Case Report With Serial Imaging Evidence. [PDF]

Cureus
Shahzad K, Asghar Z.
europepmc   +1 more source

Hyposplenism in warm autoimmune hemolytic anemia: The missing link with venous thromboembolism?

eJHaem, 2020
Joaquín Jerez
doaj   +1 more source

Pneumococcal meningitis in hyposplenism [PDF]

Neurology and Clinical Neuroscience, 2016
Yoshimitsu Shimatani, Yuko Naka, Kenta Sato, Hironobu Shibata   +3 more
openaire   +1 more source

Purpura Fulminans and Septic Shock With Streptococcus pneumoniae Bacteraemia in a Patient With Unacknowledged Functional Hyposplenism. [PDF]

Cureus
Ramos Huamancondor C, Glorieux D.
europepmc   +1 more source