Results 41 to 50 of about 9,256,185 (298)

Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report

Clinical, Cosmetic and Investigational Dermatology, 2023
Nouf F Bin Rubaian,1 Bashayer S Al-Awam,2 Abdulelah Hassan Alluhaybi,1 Ahmed Abdulaziz Alsaati3 1Dermatology Department, King Fahad Hospital of the University, Imam Abdulrahman bin Faisal University, Al-Khobar, Saudi Arabia; 2Department of Pediatrics ...
Bin Rubaian NF, Al-Awam BS, Alluhaybi AH, Alsaati AA   +3 more
doaj  

Bezafibrate for X-linked adrenoleukodystrophy. [PDF]

PLoS ONE, 2012
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene and is characterized by impaired beta-oxidation of very-long-chain fatty acids (VLCFA) and subsequent VLCFA accumulation in tissues. In adulthood X-ALD most commonly manifests
Marc Engelen, Luc Tran, Rob Ofman, Josephine Brennecke, Ann B Moser, Inge M E Dijkstra, Ronald J A Wanders, Bwee Tien Poll-The, Stephan Kemp   +8 more
doaj   +1 more source

A Cross-Cultural Validation of the Filipino and Hiligaynon Versions of the Parts IIIB (Non-Motor Features) and IV (Activities of Daily Living) of the X-Linked Dystonia-Parkinsonism– MDSP Rating Scale

Clinical Parkinsonism & Related Disorders, 2021
Introduction: X-linked dystonia-parkinsonism (XDP) is a progressive movement disorder which also encompasses non-motor features and alterations in activities of daily living.
Richelle Ann S. Santiano, Raymond L. Rosales   +1 more
doaj   +1 more source

Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals [PDF]

International Journal of Molecular and Cellular Medicine, 2016
No abstract is needed for letter to the ...
Azadeh Ahmadifard, Javad Jamshidi, Abbas Tafakhori, Zeinab Falsafi, Hossein Darvish   +4 more
doaj  

Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia

Bone Reports, 2016
X-linked hypophosphatemia (XLH) is characterized by lower extremity deformities that lead to bone and/or joint pain that result from decreased renal tubular reabsorption leading to hypophosphatemia caused by elevated levels of fibroblast growth factor 23
Mary D. Ruppe, Xiaoping Zhang, Erik A. Imel, Thomas J. Weber, Mark A. Klausner, Takahiro Ito, Maria Vergeire, Jeffrey S. Humphrey, Francis H. Glorieux, Anthony A. Portale, Karl Insogna, Munro Peacock, Thomas O. Carpenter   +12 more
doaj   +1 more source

Ichthyosiform lesion at birth demystifying familial short stature

Indian Journal of Paediatric Dermatology, 2021
Conradi-Hünermann syndrome is a rare genetic condition characterized by skeletal malformations, skin abnormalities, cataracts and short stature. We report a term female infant presenting with a diffuse ichthyosiform erythroderma at birth.
Chanchal Kumar, Sindhu Sivanandan, Nishad Plakkal   +2 more
doaj   +1 more source

X-linked cerebral adrenoleukodystrophy

BMJ Case Reports, 2023
A man in his 30s presented with a 6-month history of progressive left face, arm and leg weakness. Medical history included epilepsy and vitamin B12 deficiency. Three maternal second degree relatives died before the age of 7 from various neurological disorders.
Weldrick, Cara Louise, Boers, Peter, Kiely, Patrick, O'Halloran, Liam   +3 more
openaire   +2 more sources

Biphasic Clinical Course of Pediatric Cytomegalovirus‐Associated Immune Thrombocytopenia: Early Poor Treatment Response but Favorable Long‐Term Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Cytomegalovirus (CMV) is a recognized trigger of immune thrombocytopenia (ITP); however, its incidence and impact on disease course in children remain controversial. Therefore, we aimed to characterize the clinical course of pediatric patients with CMV‐associated ITP.
Oded Gilad, Ohad Atia, Osama Tanous, Dafna Brik Simon, Michal Dvori, Miriam Cohen, Tracie A. Goldberg, Efraim Bilavsky, Joanne Yacobovich, Orna Steinberg‐Shemer   +9 more
wiley   +1 more source

X-linked hypophosphataemia

The Lancet
X-linked hypophosphataemia is a genetic disease caused by defects in the phosphate regulating endopeptidase homolog X-linked (PHEX) gene and is characterised by X-linked dominant inheritance. The main consequence of PHEX deficiency is increased production of the phosphaturic hormone fibroblast growth factor 23 (FGF23) in osteoblasts and osteocytes ...
Kamenický, Peter, Briot, Karine, Munns, Craig, Linglart, Agnès   +3 more
openaire   +8 more sources

Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism

Clinical Parkinsonism & Related Disorders
Introduction: Malnutrition is a leading cause of death for persons living with X-linked dystonia-parkinsonism (XDP), a degenerative disease endemic to the Philippines.
Tabitha H. Kao, Perman Gochyyev, Nutan Sharma, Jan K. de Guzman, Melanie Supnet Wells, Patrick Acuna, Shasha Li, Hannah P. Rowe, Bridget J. Perry   +8 more
doaj   +1 more source