Results 31 to 40 of about 87,553 (201)
Journal of the Formosan Medical Association, 2009 The oculocerebrorenal syndrome of Lowe, an X-linked multisystem disorder, was diagnosed in a male patient who presented with typical abnormalities of the eyes, kidneys and nervous system.
Jia-Woei Hou
doaj +1 more source
Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe): A Case Report from Eastern India [PDF]
Journal of Krishna Institute of Medical Sciences University, 2014 Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a rare X-linked recessive metabolic disorder that primarily affects eyes, kidneys and brain. It is caused by the deficiency of enzyme phosphatidylinositol 4, 5-bisphosphate 5-phosphatase.
Dipankar Das +2 more
doaj
The Hajj 2019 Vaccine Requirements and Possible New Challenges [PDF]
, 2019 Each year millions of pilgrims perform the annual Hajj from more than 180 countries around the world. This is one of the largest mass gathering events and may result in the occurrence and spread of infectious diseases.
Al-Tawfiq, Jaffar A., Memish, Ziad A.
core +1 more source
Low anterior resection syndrome
Journal of Surgical Oncology, 2023 AbstractLow anterior resection syndrome represents a clinical state wherein a constellation of gastrointestinal symptoms is a direct result of anatomic changes to the rectum. Patients who undergo operations to create a neorectum often develop persistent symptoms of increased frequency, urgency, diarrhea, and these symptoms are debilitating and impact ...
Matthew C. Hernandez +2 more
openaire +5 more sources
Stem Cell Research, 2021 Lowe Syndrome (LS) is a rare X-linked multisystemic disorder syndrome, which can be caused by the gene mutations of OCRL. In present study, the urine cells (UCs) derived from a 12-year-old male LS patient with the hemizygote OCRL gene mutation p.M876N (c.
Rengchen Qian +8 more
doaj +1 more source
Zdravniški Vestnik, 2018 Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular
Eva Bahor, Rina Rus
doaj +1 more source
Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene
Saudi Journal of Kidney Diseases and Transplantation, 2020 The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome.
Suman Sethi +5 more
doaj +1 more source
Sleep, anxiety and challenging behaviour in children with intellectual disability and/or autism spectrum disorder [PDF]
, 2011 Children with an intellectual disability (ID) and/or autism spectrum disorder (ASD) are known to suffer from significantly more sleep problems, anxiety and challenging behaviour (CB) than typically developing children (TD), yet little is known about the ...
McClure, Iain +3 more
core +1 more source
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]
, 2015 open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Angela D’Angelo +9 more
core +2 more sources
Identifying characteristics of frailty in female mice using a phenotype assessment tool [PDF]
, 2019 Preclinical studies are important in identifying the underlying mechanisms contributing to frailty. Frailty studies have mainly focused on male rodents with little directed at female rodents.
Baumann, Cory W. +2 more
core +1 more source