Gene tyrosinemias. Medical search. Frequent questions

There are five other known types of tyrosinemia, all of which derange the metabolism of tyrosine in the human body. (wikipedia.org)
There are three types of tyrosinemia, distinguished by their symptoms and genetic cause. (medlineplus.gov)

Short-term nitisinone discontinuation of hereditary tyrosinemia type 1 mice causes metabolic alterations in glutathione metabolism/biosynthesis and multiple amino acid degradation pathways. (github.io)

Without treatment, children with tyrosinemia type I often do not survive past the age of 10. (medlineplus.gov)
[ 8 ] Nitisinone is approved in the United States for the treatment of children with tyrosinemia type I. It acts by inhibiting the enzyme 4-hydroxyphenyl pyruvic acid and therefore can decrease formation of HGA. (medscape.com)

Conventional therapy for hereditary tyrosinemia type-1 (HT1) with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) delays and in some cases fails to prevent disease progression to liver fibrosis, liver failure, and activation of tumorigenic pathways. (biorxiv.org)
Genomic integration displayed a benign profile, with subsequent fibrosis and tumorigenicity gene expression patterns similar to wild-type animals as compared to NTBC-treated or diseased untreated animals. (biorxiv.org)
Tyrosinemia type I is a genetic disorder that disrupts the metabolism of the amino acid tyrosine, resulting in damage primarily to the liver along with the kidneys and peripheral nerves. (wikipedia.org)
Tyrosinemia type I is an autosomal recessive disorder caused by mutations in both copies of the gene encoding the enzyme fumarylacetoacetate hydrolase (FAH). (wikipedia.org)
While there is no cure for tyrosinemia type I, management of the disease is possible utilizing dietary restrictions and medications. (wikipedia.org)
Tyrosinemia type I is especially prevalent in the Saguenay-Lac Saint-Jean region of Quebec, where the prevalence is 1 in 1,850 births. (wikipedia.org)
Type 1 tyrosinemia typically presents in infancy as failure to thrive and hepatomegaly. (wikipedia.org)
The presentation of symptoms of tyrosinemia type 1 in terms of timing is broken into three categories: acute, sub-acute, and chronic. (wikipedia.org)
The liver is the organ affected most by Tyrosinemia Type I due to the high level of expression of the gene for fumarylacetoacetate hydrolase (FAH) in liver cells. (wikipedia.org)
a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1). (nih.gov)
Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant. (nih.gov)
Tyrosinemia type I is the most severe form of this disorder and usually begins in the first few months of life. (medlineplus.gov)
Tyrosinemia type II often begins in early childhood and affects the eyes, skin, and mental development. (medlineplus.gov)
About half of individuals with tyrosinemia type II have some degree of intellectual disability. (medlineplus.gov)
Tyrosinemia type III is the rarest of the three types. (medlineplus.gov)
Worldwide, tyrosinemia type I affects about 1 in 100,000 individuals. (medlineplus.gov)
Tyrosinemia type II occurs in fewer than 1 in 250,000 individuals worldwide. (medlineplus.gov)
At least 86 FAH mutations have been found that cause tyrosinemia type I. This condition is characterized by severe liver and kidney disease, neurological problems, and other signs and symptoms that begin in infancy. (encyclopedia.pub)
Elevated levels of fumarylacetoacetate are thought to be toxic to cells and accumulation of this substance likely causes the liver and kidney problems and other features that are characteristic of tyrosinemia type I. (encyclopedia.pub)
In several cases of tyrosinemia type I, the FAH gene mutation has been observed to revert to the normal state in some liver cells. (encyclopedia.pub)
People with severe symptoms of tyrosinemia type I have few reverted cells, while those with milder symptoms have many cells with the reverted FAH gene. (encyclopedia.pub)
Fernández-Lainez C, Ibarra-González I, Belmont-Martínez L, Monroy-Santoyo S,Guillén-López S, Vela-Amieva M. Tyrosinemia type I: clinical and biochemicalanalysis of patients in Mexico. (encyclopedia.pub)
Functional analysis and in vitro correction of splicing FAHmutations causing tyrosinemia type I. Clin Genet. (encyclopedia.pub)
Type I tyrosinemia is most common among children of French-Canadian or Scandinavian descent. (msdmanuals.com)
Every state in the United States requires all newborns be screened for type I tyrosinemia with a blood test. (msdmanuals.com)
apply prime editing to precisely correct the disease-causing mutations in mouse models of hereditary tyrosinemia type 1 (HT-1 mice) and Leber congenital amaurosis (LCA mice), using hydrodynamic or subretinal delivery, respectively. (nature.com)
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. (cdc.gov)
The Tyrosinemia Type 1 (TT1) market dynamics are anticipated to change in the coming years owing to the expected approval of emerging therapies focused on treating Tyrosinemia Type 1 (TT1) during the forecast period of 2021‒2034. (olympusresearchglobal.com)
In Japan, the reported prevalence rate of Tyrosinemia Type 1 is approximately 0.5 per 100,000 in general population. (olympusresearchglobal.com)
There are presently a few key players in the Tyrosinemia Type 1 (TT1) market, including Vitaflo International LTD., Cycle Pharmaceutics LTD., and others. (olympusresearchglobal.com)
Olympus Research Global's (ORG) "Tyrosinemia Type 1 (TT1)-Market Insights, Epidemiology, Industry trends & Market Forecast-2034" report provides an overview of the disease and market size of Tyrosinemia Type 1 (TT1) for the seven major markets i.e., the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan. (olympusresearchglobal.com)
The Report covers the overview, treatment practice and Tyrosinemia Type 1 (TT1) forecasted epidemiology from 2021 to 2034 segmented by the seven major markets. (olympusresearchglobal.com)
Tyrosinemia type I (TT1) is a rare autosomal recessive genetic metabolic disorder characterized by the lack of fumarylacetoacetate hydrolase (FAH) enzyme, which is needed for the final break down of the amino acid tyrosine. (olympusresearchglobal.com)
Symptoms of tyrosinemia type I may vary within babies and adult patients. (olympusresearchglobal.com)
Infants with tyrosinemia type I typically present with either the acute or chronic form of the disorder including failure to gain weight which grow at the expected rate. (olympusresearchglobal.com)
Tyrosinemia type I is inherited as an autosomal recessive genetic condition caused by mutation in fumarylacetoacetate hydrolase (FAH) gene responsible for the production of the FAH enzyme whose deficiency can lead to accumulation of fumarylacetoacetate, tyrosine and its metabolites in the liver, kidney, and central nervous system thus, eventually leading to tyrosinemia type I. (olympusresearchglobal.com)
Tyrosinemia type 1 is generally diagnosed when tyrosine metabolites and succinyl acetone are detected in the urine and blood. (olympusresearchglobal.com)
Tyrosinemia type 1 is diagnosed through clinical evaluation, a detailed patient history, specialized tests, newborn screening programs and other medical techniques. (olympusresearchglobal.com)
This segment of the Tyrosinemia Type 1 (TT1) report encloses the detailed analysis of marketed drugs and late-stage pipeline drugs. (olympusresearchglobal.com)
The incidence of Tyrosinemia Type 1 (TT1) is increasing and thus has led to the growing need for effective drugs in recent years. (olympusresearchglobal.com)
Tyrosinaemia type 1 (TT1) is a rare autosomal recessively inherited disorder of tyrosine metabolism leading to accumulation of tyrosine and its metabolites in liver, kidney and central nervous system. (eurospe.org)
Mapping of IDUA gene variants in mucopolysaccharidosis type 1 Pakistani patients. (edu.pk)
Lead poisoning and hereditary tyrosinemia type I can cause neuropathies similar to those of acute intermittent porphyria (AIP), as well as elevated porphyrins and aminolevulinic acid (ALA). Conditions with similar presentations to AIP but without elevated porphobilinogen (PBG) excretions include Guillain-Barré syndrome and seizures. (arupconsult.com)
Forty-eight patients with the diagnosis of classic galactosemia, maple syrup urine disease, hereditary tyrosinemia type 1, lysinuric protein intolerance and ten healthy children were included in the study. (hacettepe.edu.tr)
This is the first study which investigates the inflammasome and autophagy gene and protein expressions, the relationship between oxidative stress, autophagy and inflammation, immun functions and metabolomic profiling simultaneously in intoxication type inherited metabolic diseases. (hacettepe.edu.tr)
Hereditary tyrosinemia type 1 (HT1) is a genetic disorder of the tyrosine degradation pathway (TIMD) with unmet therapeutic needs. (edgehill.ac.uk)
Nitisinone is not licensed for the treatment of AKU, but it is licensed for use in babies to treat tyrosinaemia type 1 (HT-1), an amino acid disorder which can cause serious liver damage if left untreated. (nihr.ac.uk)
Other conditions that clinically and biochemically may mimic acute porphyria include lead poisoning and hereditary tyrosinemia type I. The diagnosis of one of these acute porphyric syndromes should be considered in many patients with otherwise unexplained abdominal pain, severe constipation, systemic arterial hypertension, or other characteristic symptoms. (ashpublications.org)
Drugs for four of these diseases -Tyrosinemia Type 1, Gaucher's Disease, Wilson's Disease and Dravet-Lennox Gastaut Syndrome - along with sickle cell Anemia have been approved and are being manufactured indigenously. (medworm.com)
Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinemia type I. Acta Paediatr. (springer.com)

De Braekeleer M, Lamarre V , Scriver CR, Larochelle J, Bouchard G. Fertility in Couples Heterozygous for the Tyrosinemia Gene in Saguenay Lac-Saint-Jean. (chusj.org)

Variants (also called mutations) in the FAH , TAT , and HPD genes can cause tyrosinemia types I, II, and III, respectively. (medlineplus.gov)
X-linked hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets are the result of mutations in PHEX (a phosphate-regulating gene with homologies to endopeptidases on the X chromosome) and dentin matrix protein 1 ( DMP1 ), respectively. (medscape.com)
Of the approximately 25,000 identified genes in the human genome so far, mutations in over 3,000 have been linked to disease. (royalsociety.org.nz)
In Silico Analysis of Nphs1 Gene Mutations Identified in Patients with Steroid Resistant Nephrotic Syndrome. (edu.pk)
Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees. (edu.pk)
Mutations in the human version of the gene are associated with a rare disorder called dominant familial hypercholesterolemia, and the FDA recently approved two antibody drugs that inhibit Pcsk9. (drugtargetreview.com)
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. (springer.com)
The genetic defect is autosomal recessive and is mapped to the HGO gene on arm 3q1, and 18 genetic missense mutations are known to cause homogentisic acid oxidase aberrations. (medscape.com)

Transient tyrosinemia is believed to result from delayed enzyme maturation in the tyrosine catabolic pathway. (medscape.com)
Transient tyrosinemia is not categorized as an inborn error of metabolism because it is not caused by a genetic mutation. (medscape.com)
About 1 in 10 of all newborns have temporarily elevated levels of tyrosine (transient tyrosinemia). (medlineplus.gov)

Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production. (nih.gov)
The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase, which performs the last step of tyrosine breakdown. (medlineplus.gov)
Fumarylacetoacetate hydrolase: The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase. (encyclopedia.pub)
The altered FAH gene that causes this condition produces an unstable or inactive enzyme, which results in reduced or absent fumarylacetoacetate hydrolase activity. (encyclopedia.pub)
If enough cells have the reverted gene, which produces normal fumarylacetoacetate hydrolase, some level of enzyme activity is achieved. (encyclopedia.pub)
Gln64His) in fumarylacetoacetate hydrolase (FAH) gene which they inherited from their parents who were heterozygous carriers of the same mutation. (eurospe.org)

The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. (medlineplus.gov)
Two Novel Variants in CYP1B1 gene: A major contributor of autosomal recessive Primary Congenital Glaucoma with allelic heterogeneity in Pakistani patients. (edu.pk)

FAH Gene" Encyclopedia , https://encyclopedia.pub/entry/5508 (accessed December 02, 2023). (encyclopedia.pub)

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. (mousephenotype.org)
In a new study, researchers have developed nanoparticles that can deliver the CRISPR genome-editing system and specifically modify genes in mice. (drugtargetreview.com)
The researchers were able to eliminate this gene in more than 80 percent of liver cells, and the Pcsk9 protein was undetectable in these mice. (drugtargetreview.com)
Overexpression of Rtl1 in the livers of adult mice using a hydrodynamic gene delivery technique resulted in highly penetrant (86%) tumor formation. (prolekarniky.cz)

The enzyme produced from the TAT gene, called tyrosine aminotransferase enzyme, is involved in the first step in the process. (medlineplus.gov)
Variants in the FAH , TAT , or HPD gene reduce the activity of one of the enzymes that break down tyrosine. (medlineplus.gov)
Tyrosinemia is caused by a lack of the enzyme needed to metabolize the amino acid tyrosine. (msdmanuals.com)
Children with tyrosinemia are unable to completely break down (metabolize) the amino acid tyrosine. (msdmanuals.com)

The HPD gene provides instructions for making the 4-hydroxyphenylpyruvate dioxygenase enzyme, which performs the second step. (medlineplus.gov)
Thus defects in this enzyme may lead to severe metabolic disorders including alkaptonuria, phenylketonuria and tyrosinaemia. (nih.gov)
In commercial development, the common white button mushroom has been modified by CRISPR at Penn State University to prevent them from becoming off-colour by targeting a gene that produces an enzyme that causes browning. (royalsociety.org.nz)
However, a mutation in one particular gene , the one responsible for producing the enzyme PAH, can result in the disruption of this harmony, as the body loses its ability to metabolize phenylalanine. (newworldencyclopedia.org)
However, a genetic mutation in the gene that is necessary for producing PAH can result in no, or poor quality, enzyme being made. (newworldencyclopedia.org)
Deficiency of heme, the end-product of heme pathway shown in Figure 1 , which not only represses transcription of the ALA synthase-1 gene, 2 but also blocks translocation of the enzyme into mitochondria and decreases the stability of its mRNA. (ashpublications.org)

For example, CRISPR has been used in research mouse models to correct a mutation in genes responsible for Hepatitis B, haemophilia, severe combined immunodeficiency, cataracts, cystic fibrosis, hereditary tyrosinemia and inherited Duchenne muscular dystrophy. (royalsociety.org.nz)
Researchers at Deakin University in Australia are working with gene modifications using CRISPR to produce hypoallergenic eggs. (royalsociety.org.nz)
In the UK, the Human Fertilisation and Embryology Authority (HFEA) has approved an application for the use of CRISPR in healthy human embryos to help researchers to investigate the genes involved in early embryo development. (royalsociety.org.nz)
In China, researchers have used CRISPR in non-viable human embryos to genetically modify genes responsible for ß-thalassemia, a potentially fatal blood disorder, and to modify genes in immune cells to develop increased HIV resistance. (royalsociety.org.nz)
Using the new delivery technique, the researchers were able to cut out certain genes in about 80 percent of liver cells, the best success rate ever achieved with CRISPR in adult animals. (drugtargetreview.com)
In 2014, Prof Anderson, research scientist Hao Yin, and their colleagues developed a nonviral delivery system in the first-ever demonstration of curing a disease (the liver disorder tyrosinemia) with CRISPR in an adult animal. (drugtargetreview.com)

Several transcript variants of this gene encode multiple protein isoforms. (nih.gov)
Gene-editing tools are now being used to understand how gene variants are linked to disease in mammalian cells and whole animal models, indicating the potential for this technology to be used to understand and treat human disease (see FIG. 3). (royalsociety.org.nz)
Association of specific single nucleotide variants (SNVs) in the promoter and 3'-Untranslated region of Vascular Endothelial growth factor (VEGF) gene with risk and higher tumour grade of head and neck cancers. (edu.pk)

Inborn errors of metabolism form a large group of genetic diseases involving defects in genes coding for enzymes, receptors, cofactors etc. in metabolic pathways [ 1 ]. (alliedacademies.org)
In recent years, the number of gene therapy (GT) trials targeting the liver have grown significantly, particularly when it comes to gene addition strategies (delivery of cDNA for a whole gene to the target organ/cells, which then exists in addition to the host genome with the mutated gene) to rescue monogenic diseases. (abdominalkey.com)
The large number of proof-of-concept studies in animal models showing therapeutic efficacy following AAV vector gene transfer is evidence of a potentially rich pipeline of GT drugs that could potentially be brought to the clinic and change the way genetic diseases could be treated, particularly liver diseases. (abdominalkey.com)
In this chapter, we will discuss some of the key approaches to GT for liver-based metabolic diseases (LBMDs), with a focus on the advances of gene addition approaches and AAV-based GT strategies, and will present some of the main achievements, and emerging issues, of the field of in vivo gene transfer. (abdominalkey.com)
other findings are common for several diseases associated with Fanconi syndrome, such as hepatomegaly, which can be found in glycogenosis, galactosemia, and tyrosinemia. (medscape.com)
Genes & Diseases , 10 , 1759-1762. (github.io)
I think having a fully synthetic nanoparticle that can specifically turn genes off could be a powerful tool not just for Pcsk9 but for other diseases as well," Anderson says. (drugtargetreview.com)

which means both copies of the gene in each cell must have a variant to cause the disorder. (medlineplus.gov)
Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. (msdmanuals.com)
The major risk factors include chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, environmental carcinogens such as aflatoxin B1 (AFB1), alcoholic cirrhosis, and inherited genetic disorder such as hemochromatosis, Wilson's disease, and tyrosinemia. (hindawi.com)

Frequent mutation reversioninversely correlates with clinical severity in a genetic liver disease,hereditary tyrosinemia. (encyclopedia.pub)

Association of vitamin D receptor gene polymorphisms and risk of urolithiasis: results of a genetic epidemiology study and comprehensive meta-analysis. (edu.pk)

Hemophilia Gene Therapy: The End of the Beginning? (vub.be)
Human Gene Therapy. (vub.be)
Molecular Therapy : The Journal of the American Society of Gene Therapy. (vub.be)
An experimental gene therapy was little Alissa's only hope. (unitn.it)
Most importantly, a set of 25 genes related to liver disease and HCC development was identified that was differentially regulated in HT1 vs. AKU mouse livers under NTBC therapy. (edgehill.ac.uk)
The Gao Lab is part of the Horae Gene Therapy Center. (umassmed.edu)

AAV gene transfer persistence in a developing versus adult liver. (abdominalkey.com)

These compounds are toxic to cells and lead to differential gene expression and apoptosis in high concentrations. (wikipedia.org)
An assay measuring the expression of lacZ shows the tissue where the gene is expressed. (mousephenotype.org)
No Embryo expression data was found for this gene. (mousephenotype.org)
Determination of expression profile of p53 gene in different grades of breast cancer tissues by real time PCR. (edu.pk)
For the current study, we performed transcriptome and small RNA sequencing to profile gene expression in SB-induced HCCs in an attempt to clarify the genetic element(s) contributing to tumorigenesis. (prolekarniky.cz)
ATF-3 induces DNA synthesis and expression of cyclin D1 in hepatocytes [ 21 ] and is involved in serum-induced cell proliferation as a target gene of c-myc [ 10 ]. (hindawi.com)
Deficiency of glucose or other gluconeogenic compounds that suppress gene expression of ALA synthase-1 (the so-called "glucose effect" 2 ). (ashpublications.org)

Clinical trials with patients are underway in the US using ZFN to modify the genes of immune-system cells to treat HIV. (royalsociety.org.nz)
HIV infects and destroys immune system cells and key genes within these cells have been modified using ZFN to make them resistant to HIV, and the cells then transplanted back into patients. (royalsociety.org.nz)
NLRP3 gene expressions were found to be higher with specific clinical phenotypes such as cataract in galactosemia patients, lung involvement in LPI group or hepatic fibrosis in tyrosinemi patients. (hacettepe.edu.tr)

The biochemical basis for tyrosinemia I remained enigmatic until the late 1970s, when researchers described a compound called succinylacetone (SAA) found in the urine of infants with the condition. (medscape.com)

Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. (msdmanuals.com)
The new nanoparticles permanently edit the gene following a single treatment, and the technique also offers promise for treating other liver disorders, according to the MIT team. (drugtargetreview.com)

The GSTZ1 gene product, glutathione transferase zeta 1, is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. (nih.gov)

It is a genetic disease caused when both parents pass the AKU gene to their children. (nihr.ac.uk)

Please note that Quest offers a variety of single gene and gene panel testing. (questwomenshealth.com)
For the genetic panel noted in this document, there may be single gene tests or smaller panels that may be applicable for your patient. (questwomenshealth.com)

In tyrosinemia, both parents of the affected child carry a copy of the abnormal gene. (msdmanuals.com)
This means that a child must inherit abnormal genes from both parents to develop PKU (Longe 2006). (newworldencyclopedia.org)

Genes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic. (msdmanuals.com)
GS-002 also induced endoplasmic reticular (ER) stress as evidenced by increases in ER stress-responsive proteins including glucose-regulated protein 78 (GRP78), growth arrest- and DNA damage-inducible gene 153 (GADD153), phosphorylated eukaryotic initiation factor 2 α (eIF2 α ), phosphorylated protein endoplasmic-reticular-resident kinase (PERK), and ATF-3. (hindawi.com)

In Scotland, ZFN has been used by the University of Edinburgh to modify a gene in pigs to the version of the gene found in warthogs, to produce pigs that are potentially resilient to the disease. (royalsociety.org.nz)

Hereditary infantile tyrosinemia, or tyrosinemia I, is a completely different disease. (medscape.com)
Tyrosinemia II is a disease with a clinical presentation distinctly different from that described above. (medscape.com)
The biochemical and enzymatic basis for the disease bears no relationship to that of tyrosinemia I, and tyrosinemia II is not discussed further in this article. (medscape.com)
The differentially expressed genes were enriched in toxicological gene classes related to liver disease, liver damage, liver regeneration and liver cancer, in particular HCC. (edgehill.ac.uk)
People with one gene are carriers because they do not have the disease, but can pass it on to their children. (newworldencyclopedia.org)

Gene editing is also being used by researchers to try to overcome allergic reactions to chicken eggs, which prevents about 2% of children worldwide from receiving many routine vaccinations. (royalsociety.org.nz)
In the US, researchers have used gene-editing technologies on agricultural crops such as maize, soybean, sorghum, and developed a rice resistant to bacterial blight. (royalsociety.org.nz)
In most cases, researchers rely on viruses to carry the gene for Cas9, as well as the RNA guide strand. (drugtargetreview.com)
Using this approach, in which the guide RNA was still delivered by a virus, the researchers were able to edit the target gene in about 6 percent of hepatocytes, which is enough to treat tyrosinemia. (drugtargetreview.com)

Prime editing is a rapidly emerging gene-editing technology that mediates targeted insertions, deletions, and base-to-base conversions, without double strand breaks or donor DNA. (nature.com)

Types of tyrosinemia2

Hereditary tyrosinemia type 1 mice1

Children with tyrosinemia type2

Type50

Saguenay-Lac1

Mutations8

Transient tyrosinemia3

Fumarylacetoacetate hydrolase6

Autosomal2

20231

Mice4

Tyrosine4

Enzyme6

CRISPR6

Variants3

Diseases7

Disorder3

Mutation1

Epidemiology1

Therapy6

Adult1

Expression7

Patients3

Urine1

Disorders2

Glutathione1

Genetic disease1

Single gene2

Abnormal2

Protein2

Version of the gene1

Disease5

Researchers4

Prime1