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Primary hyperoxaluria, type I(HP1)

MedGen UID:
75658
Concept ID:
C0268164
Disease or Syndrome
Synonyms: Alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria; Hepatic AGT deficiency; HP1; Oxalosis 1; OXALOSIS I; Peroxisomal alanine glyoxylate aminotransferase deficiency; Primary hyperoxaluria type 1; Serine pyruvate aminotransferase deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
autosomal recessive
MedGen UID:
832197
Concept ID:
CN227382
Intellectual Product
Source: Orphanet
Describes a disorder in which two mutated alleles located on one of the 22 autosomes (non-sex chromosomes) are necessary to express the phenotype and which carries a 25% risk of being passed on to offspring.
SNOMED CT: Primary hyperoxaluria, type I (65520001); Glycolic aciduria (65520001); Alanine-glyoxylate aminotransferase deficiency (65520001); 2-Oxoglutarate glyoxylate carboligase deficiency (65520001); Oxalosis type I (65520001); Primary hyperoxaluria type I (65520001); Alanine-glycoxylate aminotransferase deficiency (65520001)
 
Gene (location): AGXT (2q37.3)
OMIM®: 259900
Orphanet: ORPHA93598

Disease characteristics

Excerpted from the GeneReview: Primary Hyperoxaluria Type 1
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium salts that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis/urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD) with a history of renal stones or calcinosis. Age at onset of symptoms typically ranges from one to 25 years. Approximately 19% of affected individuals present before age four to six months with severe disease, often associated with failure to thrive, nephrocalcinosis, anemia, and metabolic acidosis. Approximately 54% of affected individuals present in late childhood or early adolescence, usually with symptomatic nephrolithiasis. The remainder of affected individuals present in adulthood with recurrent renal stones. The natural history of untreated PH1 is one of inexorable decline in renal function as a result of progressive nephrolithiasis/nephrocalcinosis, with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD. [from GeneReviews]
Authors:
Marion B Coulter-Mackie  |  Colin T White  |  Dirk Lange, et. al.   view full author information

Additional descriptions

From OMIM
Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae (Takada et al., 1990; Danpure et al., 1989; Williams et al., 2009) Genetic Heterogeneity of Primary Hyperoxaluria Type II primary hyperoxaluria (HP2; 260000) is caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR; 604296) on chromosome 9. Type III primary hyperoxaluria (HP3; 613616) is caused by mutation in the mitochondrial dihydrodipicolinate synthase-like gene (DHDPSL; 613597) on chromosome 10q24.  http://www.omim.org/entry/259900
From GHR
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.  http://ghr.nlm.nih.gov/condition/primary-hyperoxaluria

Clinical features

Peripheral artery occlusive disease
MedGen UID:
13913
Concept ID:
C0003838
Disease or Syndrome
A narrowing of the peripheral arteries (i.e., of arteries other than thos that supply the heart and the brain).
Atrioventricular block
MedGen UID:
13956
Concept ID:
C0004245
Disease or Syndrome
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
Intermittent claudication
MedGen UID:
7115
Concept ID:
C0021775
Disease or Syndrome
A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE.
Cutis marmorata
MedGen UID:
78093
Concept ID:
C0263401
Disease or Syndrome
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Retinopathy
MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. It provides the sharp, central vision needed for reading, driving and seeing fine detail. Retinal disorders affect this vital tissue. They can affect your vision, and some can be serious enough to cause blindness. Examples are. -Macular degeneration - a disease that destroys your sharp, central vision. -Diabetic eye disease. -Retinal detachment - a medical emergency, when the retina is pulled away from the back of the eye. -Retinoblastoma - cancer of the retina. It is most common in young children. -Macular pucker - scar tissue on the macula. -Macular hole - a small break in the macula that usually happens to people over 60. -Floaters - cobwebs or specks in your field of vision. NIH: National Eye Institute.
Optic neuropathy
MedGen UID:
854546
Concept ID:
C3887709
Disease or Syndrome
Damage to the optic nerve.
Retinal crystals
MedGen UID:
850846
Concept ID:
CN231537
Finding
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Hyperoxaluria
MedGen UID:
43782
Concept ID:
C0020500
Disease or Syndrome
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.
Renal failure syndrome
MedGen UID:
11177
Concept ID:
C0035078
Disease or Syndrome
Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure. If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant. Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Calcium oxalate urolithiasis
MedGen UID:
318935
Concept ID:
C1833683
Disease or Syndrome
Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts. Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body. . There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Some are the result of other diseases, like diabetic nerve problems. Others, like Guillain-Barre syndrome, happen after a virus infection. Still others are from nerve compression, like carpal tunnel syndrome or thoracic outlet syndrome. In some cases, like complex regional pain syndrome and brachial plexus injuries, the problem begins after an injury. Some people are born with peripheral nerve disorders. Symptoms often start gradually, and then get worse. They include . - Numbness. - Pain. - Burning or tingling. - Muscle weakness. - Sensitivity to touch. Treatment aims to treat any underlying problem, reduce pain and control symptoms. NIH: National Institute of Neurological Disorders and Stroke.
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Acrocyanosis
MedGen UID:
65138
Concept ID:
C0221347
Disease or Syndrome
Persistent, symmetric, and painless blue discoloration of the extremities. It is the result of vasospasm in response to cold. The affected areas are cold and sweaty.
Gangrene
MedGen UID:
6546
Concept ID:
C0017086
Disease or Syndrome
Gangrene is the death of tissues in your body. It happens when a part of your body loses its blood supply. Gangrene can happen on the surface of the body, such as on the skin, or inside the body, in muscles or organs. Causes include. -Serious injuries. -Problems with blood circulation, such as atherosclerosis and peripheral arterial disease. -Diabetes. Skin symptoms may include a blue or black color, pain, numbness, and sores that produce a foul-smelling discharge. If the gangrene is internal, you may run a fever and feel unwell, and the area may be swollen and painful. Gangrene is a serious condition. It needs immediate attention. Treatment includes surgery, antibiotics, and oxygen therapy. In severe cases an amputation may be necessary.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Hyperoxaluria
MedGen UID:
43782
Concept ID:
C0020500
Disease or Syndrome
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Acid accumulation or depletion of base in the body due to buildup of metabolic acids.
Pathologic fracture
MedGen UID:
42095
Concept ID:
C0016663
Pathologic Function
Fractures occurring as a result of disease of a bone or from some undiscoverable cause, and not due to trauma. (Dorland, 27th ed)
Osteosclerosis
MedGen UID:
10502
Concept ID:
C0029464
Disease or Syndrome
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Acrocyanosis
MedGen UID:
65138
Concept ID:
C0221347
Disease or Syndrome
Persistent, symmetric, and painless blue discoloration of the extremities. It is the result of vasospasm in response to cold. The affected areas are cold and sweaty.
Cutis marmorata
MedGen UID:
78093
Concept ID:
C0263401
Disease or Syndrome
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Primary hyperoxaluria, type I in Orphanet.

Professional guidelines

PubMed

Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS; OxalEurope
Nephrol Dial Transplant 2012 May;27(5):1729-36. doi: 10.1093/ndt/gfs078. PMID: 22547750

Recent clinical studies

Etiology

Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD, Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, Bacchetta J
Pediatr Nephrol 2015 Oct;30(10):1807-13. Epub 2015 May 14 doi: 10.1007/s00467-015-3090-x. [Epub ahead of print] PMID: 25972204
Moray G, Tezcaner T, Özçay F, Baskın E, Akdur A, Kırnap M, Yıldırım S, Arslan G, Haberal M
Exp Clin Transplant 2015 Apr;13 Suppl 1:145-7. PMID: 25894144
Tang X, Bergstralh EJ, Mehta RA, Vrtiska TJ, Milliner DS, Lieske JC
Kidney Int 2015 Mar;87(3):623-31. Epub 2014 Sep 17 doi: 10.1038/ki.2014.298. [Epub ahead of print] PMID: 25229337Free PMC Article
Compagnon P, Metzler P, Samuel D, Camus C, Niaudet P, Durrbach A, Lang P, Azoulay D, Duvoux C, Bayle F, Rivalan J, Merville P, Pascal G, Thervet E, Bensman A, Rostaing L, Deschenes G, Morcet J, Feray C, Boudjema K
Liver Transpl 2014 Dec;20(12):1475-85. doi: 10.1002/lt.24009. PMID: 25267365
Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G; OxalEurope Consortium
Kidney Int 2014 Dec;86(6):1197-204. Epub 2014 Jul 2 doi: 10.1038/ki.2014.222. [Epub ahead of print] PMID: 24988064

Diagnosis

Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD, Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, Bacchetta J
Pediatr Nephrol 2015 Oct;30(10):1807-13. Epub 2015 May 14 doi: 10.1007/s00467-015-3090-x. [Epub ahead of print] PMID: 25972204
Moray G, Tezcaner T, Özçay F, Baskın E, Akdur A, Kırnap M, Yıldırım S, Arslan G, Haberal M
Exp Clin Transplant 2015 Apr;13 Suppl 1:145-7. PMID: 25894144
Berini SE, Tracy JA, Engelstad JK, Lorenz EC, Milliner DS, Dyck PJ
Muscle Nerve 2015 Mar;51(3):449-54. Epub 2015 Jan 16 doi: 10.1002/mus.24495. [Epub ahead of print] PMID: 25363903Free PMC Article
Tang X, Bergstralh EJ, Mehta RA, Vrtiska TJ, Milliner DS, Lieske JC
Kidney Int 2015 Mar;87(3):623-31. Epub 2014 Sep 17 doi: 10.1038/ki.2014.298. [Epub ahead of print] PMID: 25229337Free PMC Article
Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G; OxalEurope Consortium
Kidney Int 2014 Dec;86(6):1197-204. Epub 2014 Jul 2 doi: 10.1038/ki.2014.222. [Epub ahead of print] PMID: 24988064

Therapy

Moray G, Tezcaner T, Özçay F, Baskın E, Akdur A, Kırnap M, Yıldırım S, Arslan G, Haberal M
Exp Clin Transplant 2015 Apr;13 Suppl 1:145-7. PMID: 25894144
Compagnon P, Metzler P, Samuel D, Camus C, Niaudet P, Durrbach A, Lang P, Azoulay D, Duvoux C, Bayle F, Rivalan J, Merville P, Pascal G, Thervet E, Bensman A, Rostaing L, Deschenes G, Morcet J, Feray C, Boudjema K
Liver Transpl 2014 Dec;20(12):1475-85. doi: 10.1002/lt.24009. PMID: 25267365
Lorenz EC, Lieske JC, Seide BM, Meek AM, Olson JB, Bergstralh EJ, Milliner DS
Am J Transplant 2014 Jun;14(6):1433-8. Epub 2014 May 2 doi: 10.1111/ajt.12706. [Epub ahead of print] PMID: 24797341Free PMC Article
Hoyer-Kuhn H, Kohbrok S, Volland R, Franklin J, Hero B, Beck BB, Hoppe B
Clin J Am Soc Nephrol 2014 Mar;9(3):468-77. Epub 2014 Jan 2 doi: 10.2215/CJN.06820613. [Epub ahead of print] PMID: 24385516Free PMC Article
Fargue S, Rumsby G, Danpure CJ
Biochim Biophys Acta 2013 Oct;1832(10):1776-83. Epub 2013 Apr 15 doi: 10.1016/j.bbadis.2013.04.010. [Epub ahead of print] PMID: 23597595

Prognosis

Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD, Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, Bacchetta J
Pediatr Nephrol 2015 Oct;30(10):1807-13. Epub 2015 May 14 doi: 10.1007/s00467-015-3090-x. [Epub ahead of print] PMID: 25972204
Moray G, Tezcaner T, Özçay F, Baskın E, Akdur A, Kırnap M, Yıldırım S, Arslan G, Haberal M
Exp Clin Transplant 2015 Apr;13 Suppl 1:145-7. PMID: 25894144
Oppici E, Montioli R, Cellini B
Biochim Biophys Acta 2015 Sep;1854(9):1212-9. Epub 2015 Jan 22 doi: 10.1016/j.bbapap.2014.12.029. [Epub ahead of print] PMID: 25620715
Sasaki K, Sakamoto S, Uchida H, Shigeta T, Matsunami M, Kanazawa H, Fukuda A, Nakazawa A, Sato M, Ito S, Horikawa R, Yokoi T, Azuma N, Kasahara M
Pediatr Transplant 2015 Feb;19(1):E1-6. Epub 2014 Oct 17 doi: 10.1111/petr.12376. [Epub ahead of print] PMID: 25323048
Compagnon P, Metzler P, Samuel D, Camus C, Niaudet P, Durrbach A, Lang P, Azoulay D, Duvoux C, Bayle F, Rivalan J, Merville P, Pascal G, Thervet E, Bensman A, Rostaing L, Deschenes G, Morcet J, Feray C, Boudjema K
Liver Transpl 2014 Dec;20(12):1475-85. doi: 10.1002/lt.24009. PMID: 25267365

Clinical prediction guides

Oppici E, Fargue S, Reid ES, Mills PB, Clayton PT, Danpure CJ, Cellini B
Hum Mol Genet 2015 Oct 1;24(19):5500-11. Epub 2015 Jul 21 doi: 10.1093/hmg/ddv276. [Epub ahead of print] PMID: 26199318
Oppici E, Montioli R, Cellini B
Biochim Biophys Acta 2015 Sep;1854(9):1212-9. Epub 2015 Jan 22 doi: 10.1016/j.bbapap.2014.12.029. [Epub ahead of print] PMID: 25620715
Özişik GG, Asena L, Bulam B, Güngör SG
Retin Cases Brief Rep 2015 Winter;9(1):92-4. doi: 10.1097/ICB.0000000000000099. PMID: 25383836
Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G; OxalEurope Consortium
Kidney Int 2014 Dec;86(6):1197-204. Epub 2014 Jul 2 doi: 10.1038/ki.2014.222. [Epub ahead of print] PMID: 24988064
Li GM, Xu H, Shen Q, Gong YN, Fang XY, Sun L, Liu HM, An Y
BMC Nephrol 2014 Jun 17;15:92. doi: 10.1186/1471-2369-15-92. [Epub ahead of print] PMID: 24934730Free PMC Article

Recent systematic reviews

Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS; OxalEurope
Nephrol Dial Transplant 2012 May;27(5):1729-36. doi: 10.1093/ndt/gfs078. PMID: 22547750

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