Primary hyperoxaluria information

Primary hyperoxaluria is a rare condition (autosomal recessive), resulting in increased excretion of oxalate (up to 600 mg a day from normal 50 mg a day)...

cases. Primary hyperoxaluria Enteric hyperoxaluria Idiopathic hyperoxaluria Oxalate poisoning The main therapeutic approach to primary hyperoxaluria is still...

brand name Rivfloza, is a medication used for the treatment of primary hyperoxaluria. It is an LDHA-directed small interfering RNA developed by Dicerna...

facial dysmorphism, immunodeficiency, livedo, and short stature) Primary hyperoxaluria, oxalosis (oxalate vasculopathy) Cytomegalovirus infection (very...

and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria". Nephrology, Dialysis, Transplantation. 26 (11): 3609–3615. doi:10...

under the brand name Oxlumo, is a medication for the treatment of primary hyperoxaluria type 1 (PH1). The most common side effects include injection site...

which alter subcellular targeting, have been associated with type I primary hyperoxaluria. Peroxisomal disorder GRCh38: Ensembl release 89: ENSG00000172482...

the United States. This medication is used for the treatment of primary hyperoxaluria type 1 (PH1) in pediatric and adult populations. The drug is designed...

distal renal tubular acidosis, Dent's disease, hyperparathyroidism, primary hyperoxaluria, or medullary sponge kidney. 3–20% of people who form kidney stones...

Oxalobacter formigenes in the gut flora may help alleviate this. Primary hyperoxaluria is a rare, inherited condition, resulting in increased excretion...

Crystallin, HSPB5) FLNC (filamin C) Infiltrative Amyloidosis Sarcoidosis Primary hyperoxaluria Storage diseases Fabry disease Gaucher disease Hereditary hemochromatosis...

Belostotsky, Ruth; Pitt, James Jonathon; Frishberg, Yaacov (2012-12-01). "Primary hyperoxaluria type III—a model for studying perturbations in glyoxylate metabolism"...

lateral sclerosis, homozygous familial hypercholesterolemia, and primary hyperoxaluria type 1 are all amenable to ASO-based therapy. The application of...

however if not treated it can lead to renal dysfunction this includes primary hyperoxaluria, hypomagnesemic hypercalciuric nephrocalcinosis and Dent's disease...

encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II". Hum Mol Genet. 8 (11): 2063–9. doi:10.1093/hmg/8.11.2063...

as GLUT1 deficiency syndrome, cystic fibrosis, Hartnup disease, primary hyperoxaluria and hypokalemic periodic paralysis. The glucose transporter (GLUTs)...

purpura can be seen in opportunistic infections, calciphylaxis, primary hyperoxaluria, livedoid vasculopathy, pyoderma gangrenosum, and vasculopathy or...

with primary hyperoxaluria type I". Journal of Cranio-Maxillo-Facial Surgery. 40 (8): e301-6. doi:10.1016/j.jcms.2012.01.009. PMID 22417769. "Primary hyperoxaluria"...

oxalate in urine, predisposing to oxalate stone; a condition known as primary hyperoxaluria type III. GRCh38: Ensembl release 89: ENSG00000241935 – Ensembl...

disease with miglustat Rivfloza To lower urinary oxalate levels in primary hyperoxaluria type 1 and relatively preserved kidney function Talvey To treat...

protein deficiency Nonsyndromic deafness Photic sneeze reflex Primary hyperoxaluria Primary pulmonary hypertension Sitosterolemia (knockout of either ABCG5...

caused by a rare inherited autosomal recessive disorder known as primary hyperoxaluria type II (PH2). This condition can cause nephrolithiasis (kidney...

muscular dystrophy Sarepta Therapeutics 2020 Rare pediatric Oxlumo Primary hyperoxaluria type 1 Alnylam Pharmaceuticals 2020 Rare pediatric Rethymic Congenital...

syndrome (NPS) nonsyndromic deafness OCD polycythemia vera porphyria primary hyperoxaluria Tangier disease tetrasomy 9p thrombotic thrombocytopenic purpura...

oxalate kidney stone disease and primary hyperoxaluria because of its unique ability to utilize oxalate as its primary carbon source and prevent absorption...

familial hypercholesterolemia, and PBGENE-PH1, a candidate to treat primary hyperoxaluria type 1. Precision is in the process of developing multiple candidates...