Results 31 to 40 of about 4,732,768 (313)

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing

Journal of Biochemical and Clinical Genetics, 2019
Background: Primary Hyperoxaluria Type 1 (PH1) is an inborn error of metabolism caused by mutations in the AGXT gene, which encodes for the hepatocyte-specific enzyme alanine: glyoxylate aminotransferase (AGT).
Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini   +11 more
doaj   +1 more source

Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks

Orphanet Journal of Rare Diseases, 2022
Fibrodysplasia ossificans progressiva (FOP) is an ultrarare condition and one of the most impactful disorders associated with progressive heterotopic ossification events.
Alessandro Rozim Zorzi, Patricia R. Delai, Henrique L. C. Rosa, Wander E. Brito, Victor A. M. Montalli, Juliana C. Napimoga, Marcelo H. Napimoga, Francisco H. Nociti   +7 more
doaj   +1 more source

Rare ophthalmology diseases

romanian journal of ophthalmology, 2019
Rare ocular pathology has an important impact on the quality of life of patients because often the damage is bilateral and, although asymmetric, causes a significant decrease in visual acuity. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis,
Elena Angelica, Sburlan, Liliana-Mary, Voinea, Cristina, Alexandrescu, Sanziana, Istrate, Raluca, Iancu, Ruxandra, Pirvulescu, Aida, Geamanu, Mihai, Ghita, Emil, Ungureanu, Ciuluvica, Radu   +9 more
openaire   +2 more sources

Recent Polices and Practice in Rare Diseases in China

, 2022
Rare disease (RD)is the general term for a class of diseases with very low prevalence.Due to the relatively small number of patients with rare diseases, the diagnosis and treatment, drug research and development, medical safeguard, and scientific ...
ZHANG Shuyang, ZHANG Xue
core   +1 more source

Tracking sex-dependent differences in a mouse model of CLN6-Batten disease

Orphanet Journal of Rare Diseases, 2019
Background CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, and phenotypically by loss of vision, motor coordination, and ...
McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth, Jill M. Weimer   +7 more
doaj   +1 more source

Sterol auto-oxidation adversely affects human motor neuron viability and is a neuropathological feature of amyotrophic lateral sclerosis

Scientific Reports, 2021
Aberrant cholesterol homeostasis is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), a fatal neuromuscular disease that is due to motor neuron (MN) death. Cellular toxicity from excess cholesterol is averted when it is enzymatically
James C. Dodge, Jinlong Yu, S. Pablo Sardi, Lamya S. Shihabuddin   +3 more
doaj   +1 more source

Lipedema, a Rare Disease [PDF]

Annals of Rehabilitation Medicine, 2011
Lipedema is a chronic disease of lipid metabolism that results in the symmetrical impairment of fatty tissue distribution and storage combined with the hyperplasia of individual fat cells. Lipedema occurs almost exclusively in women and is usually associated with a family history and characteristic features.
Shin, Bae Wook, Sim, Young-Joo, Jeong, Ho Joong, Kim, Ghi Chan   +3 more
openaire   +2 more sources

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

罕见病研究
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group   +4 more
doaj   +1 more source

Quality of life status determinants in hypertrophic cardiomyopathy as evaluated by the Kansas City Cardiomyopathy Questionnaire

Health and Quality of Life Outcomes, 2020
Purpose The present study evaluated how heart failure (HF) negatively impacts health-related quality of life (HRQoL) in hypertrophic cardiomyopathy (HCM) patients and explored the major clinical determinants associated with HRQoL impairment in this ...
Razvan Capota, Sebastian Militaru, Alin Alexandru Ionescu, Monica Rosca, Cristian Baicus, Bogdan Alexandru Popescu, Ruxandra Jurcut   +6 more
doaj   +1 more source

Retrospective on Establishing Rare Diseases Medical Service System and Research Platform in China

, 2022
Rare diseases refer to diseases characterized by very low prevalence rate but causing serious public health problem in the society. The diagnosis and treatment of the diseases pose great challenges.During the period of 13th Five-Year, China has ...
ZHANG Shuyang, ZHU Yicheng
core   +1 more source