scholarly journals Surfactant deficiency syndrome in an infant with a C-terminal frame shift in ABCA3: A case report

2018 ◽  
Vol 53 (5) ◽  
pp. E12-E14 ◽  
Author(s):  
Nour Akil ◽  
Anthony J. Fischer
Keyword(s):  
Case Report ◽  
Deficiency Syndrome ◽  
Surfactant Deficiency ◽  
Frame Shift

Transporter Associated with Antigen Processing Deficiency Syndrome: Case Report of an Adolescent with Chronic Perforated Granulomatous Skin Lesions Due toTAP2Mutation

2013 ◽  
Vol 30 (6) ◽  
pp. e223-e225 ◽  
Author(s):  
Paschalis Konstantinou ◽  
Maria Kanariou ◽  
Silvia C. Giliani ◽  
Aikaterini Pantelidaki ◽  
Athanasios Kokolakis ◽  
...  
Keyword(s):  
Case Report ◽  
Antigen Processing ◽  
Skin Lesions ◽  
Deficiency Syndrome

scholarly journals Histoplasmosis-induced ileal perforation in a patient with acquired immune deficiency syndrome: Case report

JGH Open ◽  
2018 ◽  
Vol 2 (4) ◽  
pp. 166-168
Author(s):  
Alvaro Bellido-Caparó ◽  
Sandra Delgado Málaga ◽  
Carlos Garcia Encinas ◽  
Jorge Luis Espinoza-Rios ◽  
Jaime Cáceres Pizarro ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Case Report ◽  
Immune Deficiency Syndrome ◽  
Acquired Immune Deficiency Syndrome ◽  
Deficiency Syndrome ◽  
Ileal Perforation ◽  
Acquired Immune Deficiency

scholarly journals Total Intravenous Anesthesia in GLUT1 Deficiency Syndrome Patient: A Case Report

2019 ◽  
Vol 20 ◽  
pp. 647-650
Author(s):  
Jan Kloka ◽  
Stefanie Kranepuhl ◽  
Kai Zacharowski ◽  
Florian Jürgen Raimann
Keyword(s):  
Case Report ◽  
Deficiency Syndrome ◽  
Total Intravenous Anesthesia ◽  
Syndrome Patient ◽  
Intravenous Anesthesia ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

scholarly journals Symptoms of creatine deficiency syndrome. Case report

2018 ◽  
Vol 27 (55) ◽  
pp. 63-67
Author(s):  
Anna Lemska ◽  
◽  
Marta Zawadzka ◽  
Małgorzata Lemka ◽  
Agnieszka Sawicka ◽  
...  
Keyword(s):  
Case Report ◽  
Deficiency Syndrome ◽  
Creatine Deficiency ◽  
Creatine Deficiency Syndrome

scholarly journals Glioblastoma multiforme in a patient with common variable immunodeficiency and multiple malignancies – a case report

2017 ◽  
Vol 63 (1) ◽  
Author(s):  
Michał Larysz ◽  
Rafał Becht ◽  
Michał Falco ◽  
Przemysław Nawrocki ◽  
Ireneusz Kojder
Keyword(s):  
Immune Deficiency ◽  
Ovarian Cancer ◽  
Case Report ◽  
Glioblastoma Multiforme ◽  
Immune Deficiency Syndrome ◽  
Deficiency Syndrome ◽  
Common Variable Immune Deficiency ◽  
History Of ◽  
Previously Treated ◽  
Common Variable

ABSTRACTA case of glioblastoma multiforme in female patient suffering from common variable immune deficiency syndrome is presented. The patient with history of previously treated due to breast carcinoma and ovarian cancer. The patient underwent craniotomy twice followed by radiotherapy and chemotherapy with temozolomide and finally died after 11 months.

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