| Q90439553 | A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population |
| Q98465828 | A case of failure to thrive secondary to primary hyperoxaluria type 1 |
| Q77425442 | A case of late onset primary hyperoxaluria type I (PH-I) presented with black liver |
| Q80164238 | A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1 |
| Q28182090 | A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1 |
| Q39197697 | A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation. |
| Q42002476 | A novel mutation of human liver alanine:glyoxylate aminotransferase causes primary hyperoxaluria type 1: immunohistochemical quantification and subcellular distribution. |
| Q84274387 | A rare case of primary hyperoxaluria type 1 co-existing with autosomal-dominant polycystic kidney disease in a newborn |
| Q73565751 | A semiautomated alanine:glyoxylate aminotransferase assay for the tissue diagnosis of primary hyperoxaluria type 1 |
| Q28207594 | A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1 |
| Q74066960 | A unique molecular basis for enzyme mistargeting in primary hyperoxaluria type 1 |
| Q41323374 | A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity |
| Q38916315 | AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population |
| Q36233567 | ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case |
| Q45834904 | Adult with primary hyperoxaluria type 1 regrets not receiving preemptive liver transplantation during childhood: report of a case |
| Q71366190 | Aminooxy acetic acid: a selective inhibitor of alanine:glyoxylate aminotransferase and its use in the diagnosis of primary hyperoxaluria type I |
| Q36220466 | An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria |
| Q47619277 | Anesthesia Management of a Deceased Cadaveric-Donor Combined Liver and Kidney Transplant for Primary Hyperoxaluria Type 1: Report of a Case |
| Q87106565 | Apical sparing of longitudinal strain, left ventricular rotational abnormalities, and short-axis dysfunction in primary hyperoxaluria type 1 |
| Q60300357 | CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I |
| Q95943022 | CRISPR/Cas9-mediated metabolic pathway reprogramming in a novel humanized rat model ameliorates primary hyperoxaluria type 1 |
| Q87062972 | Calcium oxalate crystalluria points to primary hyperoxaluria type 1 |
| Q96581130 | Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations |
| Q80217888 | Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1 |
| Q72058105 | Combined hepatic and renal transplantation in primary hyperoxaluria type 1 (PH1): long-term results |
| Q44520325 | Combined hepatic and renal transplantation in primary hyperoxaluria type I: clinical report of nine cases |
| Q53668168 | Combined liver and kidney transplantation in primary hyperoxaluria type 1 in children. |
| Q68017912 | Combined liver-kidney and isolated liver transplantations for primary hyperoxaluria type 1: the European experience. The European Study Group on Transplantation in Hyperoxaluria Type 1 |
| Q74558476 | Combined liver-kidney transplantation for primary hyperoxaluria type 1 |
| Q31832605 | Combined liver-kidney transplantation for primary hyperoxaluria type 1 in young children |
| Q64042484 | Combined liver-kidney transplantation for primary hyperoxaluria type I in children: Single Center Experience |
| Q68599303 | Combined liver-kidney transplantation in primary hyperoxaluria type 1 |
| Q72420205 | Combined liver-kidney transplantation. For the genetic disorder primary hyperoxaluria type I |
| Q62076263 | Combined split liver and kidney transplantation in a three-year-old child with primary hyperoxaluria type 1 and complete thrombosis of the inferior vena cava |
| Q85609119 | Correction: Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis |
| Q47433097 | Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6. |
| Q85209248 | Cortical nephrocalcinosis in an infant caused by primary hyperoxaluria type 1 |
| Q24313539 | Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1 |
| Q27677394 | Crystal structure of the S187F variant of human liver alanine: Aminotransferase associated with primary hyperoxaluria type I and its functional implications |
| Q84417966 | Current treatment for primary hyperoxaluria type 1: When should liver/kidney transplantation be considered |
| Q91633959 | Cycloserine enantiomers are reversible inhibitors of human alanine:glyoxylate aminotransferase: implications for Primary Hyperoxaluria type 1 |
| Q38822823 | DETAILED CLINICAL PHENOTYPING OF OXALATE MACULOPATHY IN PRIMARY HYPEROXALURIA TYPE 1 AND REVIEW OF THE LITERATURE. |
| Q30834734 | Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type |
| Q109665386 | Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1 |
| Q35566939 | Development of a phenotypic high-content assay to identify pharmacoperone drugs for the treatment of primary hyperoxaluria type 1 by high-throughput screening |
| Q74619632 | Diagnosis and management of primary hyperoxaluria type 1 in infancy |
| Q46911997 | Diagnosis of primary hyperoxaluria type 1 by determination of peritoneal dialysate glycolic acid using standard organic-acids analysis method. |
| Q84618567 | Early Renal Failure After Domino Liver Transplantation Using Organs From Donors With Primary Hyperoxaluria Type 1 |
| Q68385287 | Early liver transplantation for primary hyperoxaluria type 1 in an infant with chronic renal failure |
| Q73314547 | Early recurrence of oxalate deposition after renal transplantation in a patient with primary hyperoxaluria type I |
| Q98562883 | Effects of Oxalobacter formigenes in subjects with primary hyperoxaluria Type 1 and end-stage renal disease: a Phase II study |
| Q43199798 | Encapsulating peritoneal sclerosis in a patient with primary hyperoxaluria type 1: a case report |
| Q41154796 | Energy-dependent degradation of a mutant serine: pyruvate/alanin: glyoxylate aminotransferase in a primary hyperoxaluria type 1 case |
| Q85936170 | Enhanced depth imaging optical coherence tomography features in a young case of primary hyperoxaluria Type 1 |
| Q70409429 | Enzymatic heterogeneity in primary hyperoxaluria type 1 (hepatic peroxisomal alanine: glyoxylate aminotransferase deficiency) |
| Q69256410 | Enzymatic prenatal diagnosis of primary hyperoxaluria type 1: potential and limitations |
| Q24670805 | Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation |
| Q42001558 | Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity |
| Q82875562 | Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1 |
| Q96687930 | Examination of the eye and retinal alterations in primary hyperoxaluria type 1 |
| Q68855007 | Exclusion of primary hyperoxaluria type I (PHI) in end-stage renal failure by enzymatic analysis of a percutaneous hepatic biopsy |
| Q63441475 | Factors influencing clinical outcome in patients with primary hyperoxaluria type 1 |
| Q67782986 | Familial urolithiasis due to primary hyperoxaluria type I |
| Q72737088 | First trimester diagnosis of primary hyperoxaluria type I |
| Q36562007 | Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele |
| Q28610589 | Further studies on the activity and subcellular distribution of alanine: Glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1 |
| Q28138843 | Gene symbol: AGXT. Disease: primary hyperoxaluria type I |
| Q38762091 | Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation. |
| Q90421504 | Generation of a Primary Hyperoxaluria Type 1 Disease Model Via CRISPR/Cas9 System in Rats |
| Q91246739 | Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene |
| Q92444708 | Generation of induced pluripotent stem cells-derived hepatocyte-like cells for ex vivo gene therapy of primary hyperoxaluria type 1 |
| Q73248842 | Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1 |
| Q35908945 | Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis |
| Q43218013 | Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome |
| Q43893907 | Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase |
| Q36951260 | Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I |
| Q36834838 | Heart failure with mitral valve regurgitation due to primary hyperoxaluria type 1: case report with review of the literature |
| Q36145370 | High throughput cell-based assay for identification of glycolate oxidase inhibitors as a potential treatment for Primary Hyperoxaluria Type 1 |
| Q72769364 | High-performance liquid chromatographic microassay for L-glutamate:glyoxylate aminotransferase activity in human liver. Application in primary hyperoxaluria type 1 |
| Q73407594 | Hypothyroidism in primary hyperoxaluria type 1 |
| Q42026779 | Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations |
| Q24306643 | Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1 |
| Q48033344 | Identification of new mutations in primary hyperoxaluria type 1 (PH1). |
| Q24298438 | Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1 |
| Q69005205 | Immunological heterogeneity of hepatic alanine:glyoxylate aminotransferase in primary hyperoxaluria type 1 |
| Q92439241 | Importance of Assessing Compliance with Conservative Treatment of Primary Hyperoxaluria Type 1: A Case Report of a Patient with I244T/c.969-3C>G Mutation |
| Q80133855 | Infantile primary hyperoxaluria type 1 with end stage renal failure |
| Q40250227 | Initial manifestation of primary hyperoxaluria type I in adults-- recognition, diagnosis, and management |
| Q46551809 | Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel |
| Q104617773 | Knockdown of lactate dehydrogenase by adeno-associated virus-delivered CRISPR/Cas9 system alleviates primary hyperoxaluria type 1 |
| Q45189807 | Late-onset primary hyperoxaluria type 1 in a Chinese individual with absent alanine: glyoxylate aminotransferase activity. |
| Q73870077 | Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1 |
| Q90453071 | Liver Transplant for Primary Hyperoxaluria Type 1: Results of Sequential, Combined Liver and Kidney, and Preemptive Liver Transplant |
| Q38332321 | Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview. |
| Q72297455 | Liver transplantation before advanced renal failure in primary hyperoxaluria type 1 |
| Q44774828 | Liver transplantation for primary hyperoxaluria type 1: a single-center experience during two decades in Japan |
| Q69369676 | Liver transplantation in primary hyperoxaluria type 1 |
| Q110662302 | Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry |
| Q85651227 | Long-term results of combined liver-kidney transplantation for primary hyperoxaluria type 1: the French experience |
| Q74137117 | Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1 |
| Q70191736 | Long-term survival of a renal allograft in a patient with primary hyperoxaluria (type I) |
| Q70603578 | Long-term survival on renal replacement therapy for primary hyperoxaluria type I |
| Q63441474 | MP34-04 INHIBITION OF GLYCOLATE OXIDASE REDUCES URINARY OXALATE EXCRETION IN A MOUSE MODEL OF PRIMARY HYPEROXALURIA TYPE 1 |
| Q81098406 | Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1 |
| Q67824506 | Metabolism of pyridoxine in mild metabolic hyperoxaluria and primary hyperoxaluria (type 1) |
| Q27678710 | Molecular Requirements for Peroxisomal Targeting of Alanine-Glyoxylate Aminotransferase as an Essential Determinant in Primary Hyperoxaluria Type 1 |
| Q80895364 | Molecular aetiology of primary hyperoxaluria type 1 |
| Q40857543 | Molecular analysis of the AGXT gene in Italian patients with primary hyperoxaluria type 1 (PH1). |
| Q70126477 | Molecular and clinical heterogeneity in primary hyperoxaluria type 1 |
| Q24298393 | Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I |
| Q28257183 | Molecular etiology of primary hyperoxaluria type 1: new directions for treatment |
| Q37971535 | Molecular insights into primary hyperoxaluria type 1 pathogenesis |
| Q39290104 | Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa |
| Q46747229 | Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results |
| Q49886405 | Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital |
| Q92453896 | Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1 |
| Q79931117 | Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1 |
| Q84947187 | Pediatrics: Timely diagnosis of primary hyperoxaluria type 1 |
| Q69889291 | Peroxisomal alanine:glyoxylate aminotransferase and prenatal diagnosis of primary hyperoxaluria type 1 |
| Q24299643 | Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I |
| Q71943555 | Persistent glycolic aciduria in a healthy child with normal alanine-glyoxylate aminotransferase activity |
| Q91797027 | Plasma oxalate levels in primary hyperoxaluria type I show significant intra-individual variation and do not correlate with kidney function |
| Q70980440 | Polymorphisms in the alanine:glyoxylate aminotransferase gene and their application to the prenatal diagnosis of primary hyperoxaluria type 1 |
| Q74137100 | Pre-emptive liver transplantation in primary hyperoxaluria type 1: a controversial issue |
| Q34066625 | Preemptive liver transplantation in primary hyperoxaluria type 1: timing and preliminary results. |
| Q46551806 | Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype. |
| Q41513887 | Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child |
| Q58583358 | Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report |
| Q85410052 | Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis |
| Q54443405 | Primary hyperoxaluria (type I): attempted treatment by combined hepatic and renal transplantation. |
| Q96616771 | Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation |
| Q63441478 | Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment |
| Q84597614 | Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2 |
| Q28269936 | Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase |
| Q79924235 | Primary hyperoxaluria type 1 and urolithiasis in children: Report of three cases |
| Q71829701 | Primary hyperoxaluria type 1 caused by peroxisome-to-mitochondrion mistargeting of alanine: glyoxylate aminotransferase |
| Q73431028 | Primary hyperoxaluria type 1 causing end-stage renal disease in a 45-year-old patient |
| Q85603896 | Primary hyperoxaluria type 1 diagnosed after kidney transplantation: The importance of pre-transplantation metabolic screening in recurrent urolithiasis |
| Q38445799 | Primary hyperoxaluria type 1 in 18 children: genotyping and outcome |
| Q46551819 | Primary hyperoxaluria type 1 in Japan |
| Q73822381 | Primary hyperoxaluria type 1 in Japan |
| Q35051564 | Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome |
| Q37838826 | Primary hyperoxaluria type 1 in Tunisian children |
| Q39017934 | Primary hyperoxaluria type 1 in Tunisian children. |
| Q35163511 | Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase |
| Q46352233 | Primary hyperoxaluria type 1 with a novel mutation |
| Q38123964 | Primary hyperoxaluria type 1 with systemic calcium oxalate deposition: case report and literature review |
| Q43990085 | Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort |
| Q67912584 | Primary hyperoxaluria type 1, peroxisomal disease: therapeutic consequences |
| Q36616875 | Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways |
| Q79874859 | Primary hyperoxaluria type 1: An underestimated cause of nephrocalcinosis and chronic renal failure in Saudi Arabian children |
| Q24517930 | Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene |
| Q53623933 | Primary hyperoxaluria type 1: appearance in FDG PET, bone- and bone marrow scintigraphy. |
| Q44945698 | Primary hyperoxaluria type 1: clinical manifestations in infancy and prenatal diagnosis |
| Q73764599 | Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT) |
| Q44228481 | Primary hyperoxaluria type 1: gene therapy by liver transplantation |
| Q72823006 | Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity |
| Q34335885 | Primary hyperoxaluria type 1: improved outcome with timely liver transplantation: a single-center report of 36 children |
| Q46385078 | Primary hyperoxaluria type 1: is genotyping clinically helpful? |
| Q38089654 | Primary hyperoxaluria type 1: practical and ethical issues |
| Q36524018 | Primary hyperoxaluria type 1: still challenging! |
| Q37781989 | Primary hyperoxaluria type 1: strategy for organ transplantation |
| Q40420898 | Primary hyperoxaluria type 1: the therapeutic dilemma |
| Q37500313 | Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. |
| Q28279809 | Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene |
| Q88878523 | Primary hyperoxaluria type I importance of pre-transplant genetic screening |
| Q44381884 | Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group |
| Q41686629 | Primary hyperoxaluria type I: an inborn error of glyoxylate metabolism |
| Q69884881 | Primary hyperoxaluria type I: oxalate and glycolate unsuitable for prenatal diagnosis |
| Q73594152 | Primary hyperoxaluria type I: renal ultrasound before and after treatment |
| Q70379524 | Primary hyperoxaluria type I: ultrastructural observations in liver biopsies |
| Q70940902 | Progression of bone lesions in a child with primary hyperoxaluria type 1: evaluation by roentgenology and MRI |
| Q43836100 | Pronounced soft tissue calcinosis in primary hyperoxaluria Type 1 |
| Q69887480 | Pyridoxine in primary hyperoxaluria type I |
| Q73464436 | Pyridoxine-responsive nephrocalcinosis and glycolic aciduria in two siblings without hyperoxaluria and with normal alanine: glyoxalate aminotransferase activity |
| Q70525826 | Radiological and histological improvement of oxalate osteopathy after combined liver-kidney transplantation in primary hyperoxaluria type 1 |
| Q72376127 | Rapid identification of primary hyperoxaluria type I patients using a novel, fully automated method for measurement of hepatic alanine: glyoxylate aminotransferase |
| Q90175518 | Re: CRISPR/Cas9-Mediated Glycolate Oxidase Disruption is an Efficacious and Safe Treatment for Primary Hyperoxaluria Type I |
| Q98612620 | Re: CRISPR/Cas9-Mediated Metabolic Pathway Reprogramming in a Novel Humanized Rat Model Ameliorates Primary Hyperoxaluria Type 1 |
| Q89777553 | Re: Cycloserine Enantiomers Are Reversible Inhibitors of Human Alanine:Glyoxylate Aminotransferase: Implications for Primary Hyperoxaluria Type 1 |
| Q86186886 | Re: Development of a Phenotypic High-Content Assay to Identify Pharmacoperone Drugs for the Treatment of Primary Hyperoxaluria Type 1 by High-Throughput Screening |
| Q87706802 | Re: Glycolate Oxidase is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I |
| Q86611495 | Re: four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine: glyoxylate aminotransferase encoded by the polymorphic minor allele |
| Q99201822 | Recovery From Dialysis in Patients With Primary Hyperoxaluria Type 1 Treated With Pyridoxine: A Report of 3 Cases |
| Q69191772 | Recurrence of nephrocalcinosis after renal transplantation in an adult patient with primary hyperoxaluria type I |
| Q91714094 | Recurrent oxalosis in a combined liver-kidney transplant patient with primary hyperoxaluria type 1 resulting in graft failure |
| Q42396930 | Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease |
| Q77150789 | Residents' corner. Answer to case of the month #84. Primary hyperoxaluria type I |
| Q34379056 | S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation |
| Q80551437 | SIR 2004 film panel case: Primary hyperoxaluria type I mimicking arterial vasculitis--a lethal disease |
| Q53170036 | SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype. |
| Q64044237 | Salicylic Acid Derivatives Inhibit Oxalate Production in Mouse Hepatocytes with Primary Hyperoxaluria Type 1 |
| Q91117164 | Same Donor Laparoscopic Liver and Kidney Procurement for Sequential Living Donor Liver-Kidney Transplantation in Primary Hyperoxaluria Type I |
| Q87723692 | Secondary perforating dermatosis in an infant with primary hyperoxaluria type I |
| Q80313618 | Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1 |
| Q86485408 | Sequential liver and kidney transplantation from a single living donor in two young adults with primary hyperoxaluria type 1 |
| Q44319224 | Sequential liver-kidney transplantation from a living-related donor in primary hyperoxaluria type 1 (oxalosis). |
| Q37131118 | Skeletal features of primary hyperoxaluria type 1, revisited |
| Q57061381 | Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I |
| Q64041449 | Structural and functional insights on the roles of molecular chaperones in the mistargeting and aggregation phenotypes associated with primary hyperoxaluria type I |
| Q74704524 | Successful kidney retransplantation after combined liver/kidney transplantation in primary hyperoxaluria type I |
| Q45982660 | Successful outcome after early combined liver and en bloc-kidney transplant in an infant with primary hyperoxaluria type 1: a case report. |
| Q69904827 | Successful treatment of primary hyperoxaluria type I by combined hepatic and renal transplantation |
| Q35977167 | Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplant |
| Q64041178 | Systemic Alanine Glyoxylate Aminotransferase mRNA Improves Glyoxylate Metabolism in a Mouse Model of Primary Hyperoxaluria Type 1 |
| Q92551089 | Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology |
| Q71969916 | Targeting of alanine: glyoxylate aminotransferase in normal individuals and its mistargeting in patients with primary hyperoxaluria type 1 |
| Q70980444 | The European Primary Hyperoxaluria Type 1 Transplant Registry report on the results of combined liver/kidney transplantation for primary hyperoxaluria 1984-1994. European PH1 Transplantation Study Group |
| Q27680557 | The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I |
| Q92740605 | The experience of combined and sequential liver and kidney transplantation from a single living donor in patients with primary hyperoxaluria type 1 |
| Q57578380 | The lower limits for protein stability and foldability in primary hyperoxaluria type I |
| Q64039324 | The ocular phenotype in primary hyperoxaluria type 1 |
| Q69926077 | The subcellular metabolism of glyoxylate in primary hyperoxaluria type 1: the relationship between glycine production and oxalate overproduction |
| Q104283740 | Transplantation for Primary Hyperoxaluria Type 1: Designing New Strategies in the Era of Promising Therapeutic Perspectives |
| Q70830062 | Transplantation in primary hyperoxaluria type 1 |
| Q45239239 | Transplantation procedures in children with primary hyperoxaluria type 1: outcome and longitudinal growth |
| Q71593088 | Transplantation procedures in primary hyperoxaluria type 1 |
| Q80098808 | Treatment of primary hyperoxaluria type 1 with sequential liver and kidney transplants from the same living donor |
| Q61798741 | Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation |
| Q33805425 | Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation |
| Q80995877 | Unusual painful sclerotic plaques on the legs of a patient with late diagnosis of primary hyperoxaluria type I |
| Q57818861 | Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review |
| Q74523010 | Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene |
| Q89894987 | [Clinical analysis of seven cases with primary hyperoxaluria type 1 in children] |
| Q80145663 | [From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene] |
| Q71854187 | [Infantile forms of primary hyperoxaluria type I: apropos of 4 cases] |
| Q73409882 | [Ocular signs of primary hyperoxaluria type I] |
| Q74722496 | [Primary hyperoxaluria type 1 (PH1)] |
| Q77322192 | [Primary hyperoxaluria type 1 detected by liver biopsy] |
| Q89441000 | [Primary hyperoxaluria type 1: a case report] |
| Q77837622 | [Results of treatment with oral citrate and pyridoxine in patients with primary hyperoxaluria type 1] |
| Q71722410 | [Value of extracorporeal shockwave lithotripsy in primary hyperoxaluria type I] |