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)...

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

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

calcium oxalate kidney stone disease and primary hyperoxaluria because it metabolizes oxalate as its primary carbon source. In vitro experiments find...

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...

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

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...

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

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

liver-targeted molecule and is being investigated for the treatment of primary hyperoxaluria. By inhibiting the final and only committed step in hepatic oxalate...

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

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...

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

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

dyskinesia, 2 Primary ciliary dyskinesia Primary craniosynostosis Primary cutaneous amyloidosis Primary granulocytic sarcoma Primary hyperoxaluria Primary hyperparathyroidism...

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"...

syndrome (NPS) nonsyndromic deafness OCD polycythemia vera porphyria primary hyperoxaluria STXBP1 Tangier disease tetrasomy 9p thrombotic thrombocytopenic...

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

Molecule Inhibitor of Lactate Dehydrogenase for the Treatment of Primary Hyperoxaluria: PO1620". Journal of the American Society of Nephrology. 31 (10S):...

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...

disease Miglustat Nedosiran To lower urinary oxalate levels in primary hyperoxaluria type 1 and relatively preserved kidney function Nirogacestat To...

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

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

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

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

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

stone analysis. Differential diagnosis Uric acid nephrolithiasis, Xanthinuria, and Primary hyperoxaluria. Medication Allopurinol. Frequency 0.4% to 1.2%...

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

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