Results 101 to 110 of about 87,553 (201)

[Lowe's syndrome].

Klinika oczna, 1995
The authors described symptoms of oculocerebral Lowe's syndrome and presented a case of this disease. It concerned a 3-week old baby with congenital cataract, hyperaminoaciduria and increasing mental and psychomotor retardation. During 16-month observation, local and general symptoms typical of Lowe's syndrome appeared.
M, Grałek, B, Bogorodzki, J, Czajkowski, S, Grałek   +3 more
openaire   +1 more source

Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms. [PDF]

J Med Genet, 2022
Sena C, Iannello G, Skowronski AA, Dannheim K, Cheung L, Agrawal PB, Hirschhorn JN, Zeitler P, LeDuc CA, Stratigopoulos G, Thaker VV.   +10 more
europepmc   +1 more source

Assessing somatization in urologic chronic pelvic pain syndrome [PDF]

, 2019
BACKGROUND: This study examined the prevalence of somatization disorder in Urological Chronic Pelvic Pain Syndrome (UCPPS) and the utility of two self-report symptom screening tools for assessment of somatization in patients with UCPPS.
Alpers, D H, Hong, B A, Lai, H H, North, C S   +3 more
core   +1 more source

Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature. [PDF]

Am J Case Rep, 2023
Goodman CP, Park H, Mladenov GD, Raymond SL, Sundin A, Radulescu A, Khan FA.   +6 more
europepmc   +1 more source

HLA-DPB1 matching status has significant implications for recipients of unrelated donor stem cell transplants. [PDF]

, 2006
Studies in unrelated donor (UD) hematopoietic stem cell transplantations (HSCT) show an effect of the matching status of HLA-DPB1 on complications. We analyzed 423 UD-HSCT pairs. Most protocols included T-cell depletion (TCD).
Madrigal, JA, Marsh, SGE, Mayor, NP, Russell, NH, Shaw, BE   +4 more
core  

Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes. [PDF]

Biomolecules, 2023
Lee JJ, Ramadesikan S, Black AF, Christoffer C, Pacheco AFP, Subramanian S, Hanna CB, Barth G, Stauffacher CV, Kihara D, Aguilar RC.   +10 more
europepmc   +1 more source

Fanconi Syndrome: Genetic and Acquired Determinants

Journal of Education, Health and Sport
Fanconi syndrome is a condition characterized by proximal tubular dysfunction of the nephron, leading to urinary loss of glucose, amino acids, and electrolytes such as phosphate, sodium, potassium, calcium, and magnesium. It often co-occurs with tubular
Rafał Rejmak, Kornelia Karamus, Jan Biłogras, Wojciech Urban, Martyna Borowska-Łygan, Konrad Strużek, Jakub Tomaszewski   +6 more
doaj   +1 more source

Lysosome positioning and mTOR activity in Lowe syndrome. [PDF]

EMBO Rep, 2021
Karabiyik C, Son SM, Rubinsztein DC.
europepmc   +1 more source

Systemic 5-fluorouracil induced lupus erythematosus: a review of the literature [PDF]

, 2019
Drug-induced subacute cutaneous lupus erythematosus (SCLE) is the most common subtype of drug-induced systemic lupus erythematosus and has been associated with more than 100 drugs.
Marsch, Amanda F, Shakhbazova, Anastasia
core  

Role of immunoturbidimetric plasma fibrin D-dimer test in patients with coronary artery disease as well as ischemic heart disease in emergency medicine [PDF]

, 2011
The aim of the present was to assess the value of the ELISA D-dimer (hemostatic marker) assay in patients with coronary artery disease as well as ischemic heart disease presenting to the emergency department with chest pain syndrome. Methods: We measured
Ajay K. Singh , Vikas Gupta, Neelima Singh, Sanjeev K. Singh , Nivedita Singh, Arun Raiza, Harshverdhan Singh , Int J Cur Biomed Phar Res.
core