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GM1 gangliosidosis symptoms

GM1 Gangliosidosis-1 - Late Onset Symptoms - NTSA

What are the symptoms of adult Late Onset GM1? First signs - Early symptoms of Late Onset GM1 gangliosidosis include clumsiness and muscle weakness in the legs. Once diagnosed, adults often reflect back to their childhood and may notice experiencing symptoms much earlier such as not being athletic and/or speech difficulties or a stutter as a child or teenager Signs and symptoms children with GM1 gangliosidosis may experience include: distinct facial features (coarse facial features) poor muscle tone ( hypotonia) enlargement of the liver and spleen (hepatosplenomegaly) exaggerated startle reaction developmental regression skeletal abnormalities seizures. First signs - Early symptoms of GM1 gangliosidosis include lack of coordination or clumsiness and muscle weakness such as struggling with stairs. A child may also exhibit slurred speech, swallowing difficulties and muscle cramps GM1 gangliosidosis is one of the lipid storage diseases. It is caused by the storage of sugary lipids called gangliosides. Most gangliosides are deposited in nerve cells. What i

GM1 Gangliosidosis Boston Children's Hospita

GM1 gangliosidosis types, causes, symptoms, diagnosis

  1. GM1 and GM2 gangliosidoses. GM1 and GM2 gangliosidoses are autosomal-recessive lysosomal storage disorders characterized by defects in the catabolism of gangliosides which accumulate in tissues, particularly in the central nervous system. GM1 gangliosidosis is caused by deficiency of β-galactosidase due to a mutation in the GLB1 gene
  2. GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile ; juvenile ; and adult onset or chronic . Although the types differ in severity, their features may overlap significantly
  3. Prognosis In Type I GM1-gangliosidosis, the child dies within a few years after the symptoms begin, typically by age two. In Type II GM1-gangliosidosis, the prognosis is variable. [encyclopedia.com
  4. Signs and symptoms may include: slowing of growth; plateau of gross and fine motor development; developmental regression; poor muscle tone ; exaggerated startle reaction; seizures; visual impairment; hearing loss; intellectual disability; Treatment for GM2 gangliosidosis. There are currently no approved therapies to reverse the effects of GM2 gangliosidosis
  5. In affected cats, signs are usually first evident by the time kittens are 1-5 months of age, and will progress over time to the point where there will be weakness (first of the hind limbs then front limbs as well), depression, seizures and eventually the kittens will die, typically at 8-10 months of age
  6. ation often reveals vacuolization of syncytiotrophoblasts. Infants display hypotonia and exaggerated startle to sounds
  7. Etiology GM1 gangliosidosis is caused by mutations in the GLB1 gene (3p22.3) coding for beta-galactosidase. Diagnostic methods Diagnosis is based on clinical signs although classic signs are not always present at diagnosis

Symptoms of GM1 gangliosidosis type 3. Symptoms. The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms. Abnormality of blood and blood-forming tissues. GM1 gangliosidosis is an inherited lysosomal storage disorder that damages nerve cells in the brain and spinal cord. Researchers have classified this condition into three (3) major types depending on the age the symptoms start appearing. These major types differ in severity; however, their features considerably overlap

GM1 Gangliosidosis-1 - Juvenile Symptoms - NTSA

  1. Affected dogs typically present with symptoms of neurologic disease around 5 to 6 months of age. Dogs with GM1 gangliosidosis have insufficient activity of the Enzyme beta-galactosidase, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of break down products such as GM1 in cells.
  2. The third type of GM1 Gangliosidosis is known as the adult or chronic form, and it represents the mildest end of the disease spectrum. The age at which symptoms first appear varies in GM1 Gangliosidosis type III, onset generally during childhood or adolescence and by cerebellar dysfunction
  3. Symptoms: Symptoms can appear within a few months after birth and include the inability to swallow or trouble feeding, loss of head control, missed developmental milestones, seizures, blindness and osteoporosis Epidemiology: The incidence of GM1 gangliosidosis [axovant.com
  4. People with GM1 gangliosidosis can experience some or many symptoms from a wide spectrum which range from severe to very mild. Generally, infants with the severe form type I have progressive developmental delay, severe progressive physical problems and early advancement of the disease which usually become apparent by the age of 6 months
  5. See the worst symptoms of affected by GM1 Gangliosidosis here . Previous. 1 answer. Next. Loss of motor control, difficulty with speaking,development stalls or regresses, physical symptoms such as bone disease. Posted Apr 11, 2019 by Cindy 100. GM1 Gangliosidosis symptoms.
  6. In GM1-gangliosidosis, ceramide tetrahexoside is the major ceramide hexoside, while ceramide trihexoside is present only in small amount. [ncbi.nlm.nih.gov] Age The infantile form (type 1) of G M1 gangliosidosis typically presents from birth to age 6 months, the juvenile form (type 2) typically presents in children aged 1-3 years, and the adult form (type 3) typically presents during childhood.
  7. Background: GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1 mutations. Because of its extreme rarity and symptoms that overlap with other neurodegenerative diseases, its diagnosis is sometimes challenging, especially in the late infantile form with less severe phenotype

In many patients with GM1 gangliosidosis, whose symptoms manifest in the juvenile period or in adulthood, distinctive features of a lysosomal storage disorders, e.g. cherry red spot, marked coarse. Type III is the mildest form of GM1 gangliosidosis. Known as the adult or chronic form, Type III can develop at various ages, but mostly during a child's teenage years. Symptoms can include involuntary muscle tensing, intellectual impairment, and abnormalities of the spinal bones Symptoms of GM1 gangliosidosis. GM1 gangliosidosis has three clinical presentations: early infantile, late infantile, and adult. Early Infantile GM1 gangliosidosis: Signs of early infantile GM1 (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver and spleen enlargement, coarsening of facial features, skeletal irregularities, joint stiffness. Clinical Features of G M1 Gangliosidosis. G M1 gangliosidosis is a disease encompassing the nervous system and numerous visceral organs. In typical cases the disease is diagnosed in early infancy. However, the clinical manifestations of G M1 gangliosidosis are heterogeneous and thus the disease is divided into 3 sub-types: Infantile (type 1 GM1 gangliosidosis neuron dysfunctional β-gal. In patients with GM1 gangliosidosis, a mutation in the GLB1 gene causes a decrease in β-gal activity, leading to a toxic buildup of the GM1 ganglioside lipids. This buildup results in cell death, degeneration of the neurons, and onset of symptoms in patients

GM1 Gangliosidosis: Causes, Symptoms & Treatmen

  1. GM1-gangliosidosisDefinitionGM1-gangliosidosis is a lysosomal storage condition caused by a reduction or the absence in the amount of the enzyme, beta-galactosidase, in cells. This condition has been referred to by other names such as Norman-Landing disease, Gangliosidosis-GM1 beta-galactosidase-1 deficiency, Hurler-variant, pseudo-Hurler disease, Tay-Sachs disease with visceral involvement.
  2. Symptoms The classic infantile (type 1) gangliosidosis, GM1 is the most severe type of this disorder that begins shortly after the birth of the infant. The symptoms include the developmental regression, seizures, enlargement of organs such as the liver and the spleen, coarse facial features, stiff joints, weak muscles, skeletal abnormalities.
  3. PBGM01 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues. This study will assess in a 2-stage design the safety, tolerability and efficacy of this treatment in patients with early onset infantile (Type 1) and late onset infantile (Type 2a) GM1 gangliosidosis

Generalized Gangliosidoses Information Page National

  1. GM1 gangliosidosis: clinical and laboratory findings in eight families Giugliani R, Dutra JC, Pereira ML, Rotta N, Drachler Mde L, Ohlweiller L, Pina Neto JM, Pinheiro CE, Breda DJ. Hum Genet. 1985;70(4):347-54
  2. GM1 gangliosidosis (GM1) is a rare genetic disorder that progressively damages cells primarily in the brain and spinal cord, and other tissues as well. Learn how gene therapy may target the cause of disease to slow or stop its progression, along with helpful information on clinical trials and staying informed. Symptoms - GM1 Type 1 is the.
  3. GM1 gangliosidosis is a rare fatal disease with no curative treatment, and is usually diagnosed at 8 months with the onset of symptoms that are caused by ganglioside deposits in various tissues. Prebirth or perinatal diagnoses have been reported, but are usually accompanied by severe symptoms or family history
  4. Signs and symptoms include seizures (fits), learning disabilities, muscle weakness, skeletal abnormalities and problems walking and, as the disease progresses, enlargement of the heart, liver and spleen. GM1 gangliosidosis is a debilitating and life-threatening disease

GM1 gangliosidosis is caused by a deficiency of beta-galactosidase-1. Three different phenotypes are known, with infantile being the most severe. The gene for beta-galactosidase-1 ( GBL1) is located on the short arm of chromosome 3, and specific mutations are responsible for the different phenotypes Search for: Rare Disease Profiles; 5 Facts; Rare IQ; Rare Mystery; GM1 gangliosidosis: Portuguese Water Dog and English Springer Spaniel. GM2 gangliosidosis: German Shorthair Pointer. What to Watch For. Symptoms of gangliosidosis in dogs can vary depending on the severity of the disease and may include: Can appear normal early on - symptoms often start 2 - 4 months of age, by 6 to 9 month

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside, oligosaccharides, and the mucopolysaccharide keratan sulfate (and their derivatives). Deficiency of the lysosomal hydrolase, acid β -galactosidase, causes GM1 gangliosidosis and Morquio disease type B (ie,. Outline : GM1 gangliosidosis is an inherited lysosomal storage disorder affecting Shiba Inu type dogs. Dogs with GM1 gangliosidosis have a deficiency in the activity of the enzyme beta-galactosidase, which is responsible for breaking down specific carbohydrates in the cells. This results in an accumulation of the ganglioside carbohydrate GM1 in. There is a continuum of severity in GM1 gangliosidosis, with earlier-onset patients having more severe and rapidly progressing disease than juvenile or adult-onset patients. There are no approved therapies; early-onset patients die within a few years of diagnosis

Gangliosides and Gangliosidoses: Principles of Molecular

Our baby has GM1 GANGLIOSIDOSIS. GM1 is a very rare disease, a degenerative lysosomal disease that mainly affects the brain, but also impacts many other organs. GM1 is a disease that today has no cure or treatment . GM1 is a disease that will take every skill or function our son was beginning to acquire GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear GM1 Gangliosidosis is an inherited central nervous system disorder that destroys nerve cells in the spinal cord and brain. GM1 gangliosidosis is classified mainly into three types depending upon the signs and symptoms of the disorder GM1 and GM2 GANGLIOSIDOSIS. The following document has been distributed to all Korat breeders and lovers via the Koratworld Mailing List and given to all interested people who have asked about it. Another more technical document is also available which describes the GM1 Gangliosidosis in Korats, written by Dr. Massimo Castagnaro (Turin University - Italy) that can be found here

The infantile form of this disorder, also known as GM1 gangliosidosis type I, is the most severe form, with an early onset and a rapidly progressive nature. Affected patients typically present with the following features shortly after birth: severe psychomotor and mental retardation, seizures, hepatosplenomegaly, growth retardation, because of. GM1 Gangliosidosis. GM1 gangliosidosis is a rare inherited lysosomal storage disorder which causes progressive nerve destruction in the brain and spinal cord. Altogether, GLB1 gene mutations cause GM1 gangliosidosis. Because this condition is inherited in an autosomal recessive pattern, patients must receive one defective gene from each parent.

GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile ; juvenile ; and adult onset or chronic . Although the types differ. GM1 gangliosidosis (sometimes known as Landing disease) is an inherited lysosomal storage disorder that destroys nerve cells in the brain and spinal cord. Researchers have classified the condition into three major types based on the age when symptoms first appear: infantile (type 1), juvenile (type 2) and adult onset or chronic (type 3) GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear. Although the types differ in severity, their features may overlap significantly Changes in this gene can also cause a condition called GM1 gangliosidosis. Babies affected by GM1 gangliosidosis appear normal at birth however begin to lose skills within the first 6 months of life. Symptoms include problems with bone development, intellectual disability, vision loss and a bigger than normal liver and spleen

GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. It has a similar pathology to Sandhoff disease and Tay-Sachs disease.The three diseases are classified together as the GM2 gangliosidoses, because each disease represents a distinct molecular point of failure in the activation of. GM2 Gangliosidosis (AX 451) GM2 Gangliosidosis, also known as Tay-Sachs disease, is a lysosomal storage disorder that progressively destroys nerve cells in the brain and spinal cord. Onset typically occurs in infancy, but it can also begin during childhood or even early adulthood. Symptoms include developmental delay, seizures, loss of hearing. GM1-GANGLIOSIDOSIS is an inherited lysosomal storage disease which is due to a deficiency of the acid hydrolase GM1-β-galactosidase1. During the past few years several clinical variants have been. GM1-Gangliosidosis. GM1-gangliosidosis caused by lack of ß-galactosidase has characteristics of mucopolysacharidosis and sphingolipidosis. ß-galactosidase plays a role in both metabolic pathways and is deficient in this disease Gangliosidosis GM1 (Enfermedad de Landing). Caso interesante de paciente recién nacido con hallazgos citomorfológicos peculiares en sus células sanguíneas, sugestivo de almacenamiento lisosomal. Se..

GM1 gangliosidoses - Wikipedi

GM1 Gangliosidosis, which is a lysosomal storage disease (LSD) [] is one of the rare neurometabolic disorders characterized by the deficiency of the enzymatic activity of ganglioside- beta-Galactosidase [].This deficiency causes the accumulation of glycolipids, keratan sulfate, and GM1 gangliosides in several tissues, particularly, in neurons of peripheral and central nervous system [] GM1 gangliosidosis describes a family of disorders that result from deficient activity of the lysosomal hydrolase, β-galactosidase, and which manifest varying degrees of neurodegeneration, retinal cherry-red spots, and visceromegaly. The three traditional subgroups of infantile, juvenile, and adult GM1 gangliosidosis show phenotypic overlap. for GM1 Gangliosidosis. GM1 Gangliosidosis. GM1 is a fatal disease caused by a mutation in the . GLB1 . gene which results in low levels of the ß -gal enzyme and accumulation of toxic storage materials in the brain and peripheral organs. No disease modifying treatments are currently available. AXO-AAV-GM1 Gene Therapy Clinical Study for GM1.

What is Gangliosidosis? (with pictures

GM1-gangliosidosis is a rare autosomal recessive lysosomal storage disease caused by deficiency of β-galactosidase (GLB1). Newborn screening (NBS) may be warranted in the near future given the initiation of a number of gene therapy clinical trials Join the GM1 Patient Network to accelerate treatment for GM1 Gangliosidosis! Collecting the health information of those impacted by GM1 gangliosidosis is essential for advancing medical research and developing drugs for treatment. You can help build momentum by joining this shared network, and by contributing your data about GM1 before late-stage symptoms. GM1 Gangliosidosis is a lysosomal storage disease where lysosomal enzyme β-galactosidase is missing. As a result, GM1 ganglioside is not broken down and accumulates in the cell, ultimately leading to cell death. One of the main aspects of GM1 Gangliosidosis, and other neurodegenerative diseases, is impaire

Registry Gangliosidoses - Full Text View - ClinicalTrials

GM1 gangliosidosis: MedlinePlus Genetic

A non-invasive biomarker and specific target are needed to diagnose and treat the disease before late-stage symptoms. GM1 Gangliosidosis is a lysosomal storage disease where lysosomal enzyme β-galactosidase is missing. As a result, GM1 ganglioside is not broken down and accumulates in the cell, ultimately leading to cell death GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by deficiency of the lysosomal hydrolase, acid beta-galactosidase. The infantile form (type 1) is characterized by progressive organomegaly, dysostosis multiplex, facial coarsening, and progressive neurologic deterioration within the first year of life GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (); juvenile (); and adult onset or chronic ().Although the types differ in severity, their features may overlap. GM1 Gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. GM1 Gangliosidosis Type 3 is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner GM1 gangliosidosis is an inherited disorder where certain chemical byproducts accumulate in tissues and organs of the body because they cannot be broken down. This is due to a deficiency of the enzyme called beta-galactosidase. This accumulation causes damage to the tissues and organs, in particular to the brain

What is GM1 Gangliosidosis? Rare Disease Day? Symptoms of

The Cure GM1 Foundation is dedicated to hope and to directly funding research for a cure for GM1 Gangliosidosis, a lysosomal storage disease that attacks the brain and spinal cord and is always fatal in children. GM1 is a progressive and degene.. GM1 Gangliosidosis: AXO-AAV-GM1 GM1 gangliosidosis is a rare and fatal pediatric lysosomal storage disorder (LSD) that progressively destroys neurons in the central nervous system and leads to a host of systemic manifestations

1.1.1 GM1 Gangliosidosis GM1 gangliosidosis is a lysosomal storage disorder found in humans [14], cattle [15-17], cats [18-20], dogs [21, 22] and sheep [23]. There have also been cases documented in emus [24], and a mouse model has been generated [25]. These species all have similar symptoms GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. 1. Introduction. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly GM1 gangliosidosis is a fatal neurodegenerative lysosomal storage disease caused by an autosomal recessively inherited deficiency of β -galactosidase activity. Effective therapies need to be developed to treat the disease. In Shiba Inu dogs, one of the canine GM1 gangliosidosis models, neurological signs of the disease, including ataxia, start at approximately 5 months of age and progress. GM1 gangliosidosis: Description, Causes and Risk Factors: GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear We report neuropathologic findings for a 66-year-old Japanese man with adult/chronic GM1 gangliosidosis whose main clinical symptoms were speech and gait disturbance attributable to dystonia with rigidity. He was a homozygote for the 51isoleucine (ATC)→ threonine (ACC) mutation in the β-galactosidase gene. Neuronal loss and intracytoplasmic storage were most prominent in the caudate nucleus.

Description. GM1-gangliosidosis type II (GM1G2) is an autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. Unlike the severe infantile type I, type II is usually not associated with macular cherry-red spots or. Medical Conditions Symptoms Search Tool, Buy Hgh Injections Online, Thanktropin Hgh For Sal Common Symptoms. GM1 gangliosidosis (Alaskan husky type) is an inherited Lysosomal Storage Disorder affecting dogs. Affected dogs typically present with symptoms of neurologic disease around 1 to 3 months of age. Dogs with GM1 gangliosidosis have insufficient activity of the Enzyme beta-galactosidase, which is responsible for breaking down. GM1 gangliosidosis is an inherited metabolic disease that results from defects in lysosomal function and which causes damage to the nervous system. Lysosomes are membrane-bound, fluid filled sacs containing enzymes that are found within almost all of the cells of the body, and these organelles act as the waste disposal system of the cell.

The symptoms of Gangliosidosis (GM1) begin to show themselves early in the life of an affected puppy. 4 to 5 months old is generally when the signs are apparent that something is wrong with the dog. The symptoms are progressive and unrelenting. Light symptoms will become more pronounced as the disease progresses GM1 gangliosidosis: A genetic lipid storage disorder that is similar in certain respects to Hurler syndrome and Tay-Sachs disease but which affects both the brain and the viscera (the internal organs). GM1 gangliosidosis causes skeletal deformities and exerts severe effects on the brain and internal organs. Death usually occurs by the age of 2 La gangliosidosis GM1 es un trastorno por almacenamiento lisosomal poco común caracterizado bioquímicamente por una actividad deficiente de la beta-galactosidasa y clínicamente por una amplia gama de rasgos neuroviscerales, oftalmológicos y dismórficos variables. El trastorno es panétnico pero su prevalencia en todo el mundo es desconocida [Learn More in MedlinePlus] GM1 gangliosidosis GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear

Download Citation | On Jan 1, 2005, Marjo S. van der Knaap and others published GM1 Gangliosidosis | Find, read and cite all the research you need on ResearchGat The research report presents a comprehensive assessment of the GM1 Gangliosidosis Market and contains thoughtful insights, facts, historical data, and statistically supported and industry-validated market data.GM1 Gangliosidosis with 100+ market data Tables, Pie Chat, Graphs & Figures spread through Pages and easy to understand detailed analysis.GM1 Gangliosidosis market future, competitive.

Video: GM1 gangliosidosis - Lysogen

MR Imaging Findings in 2 Cases of Late Infantile GM1biochemistry - Where is sialic group in gangliosides that

GM1 gangliosidosis - Conditions - GTR - NCB

230600 - gm1-gangliosidosis, type ii; gm1g2 - gangliosidosis, generalized gm1, juvenile type;; gangliosidosis, generalized gm1, type ii;; gangliosidosis, generalized. 1 Instructions for Filling in this Page 2 Summary 3 Symptom Description 4 Photo Evidence 5 Video Evidence 6 Diagnosis and Detection 7 Scientific Findings Summary 7.1 Puzzle Pieces I: Associated Chromosomes and Genes 7.2 Puzzle Pieces II: Chromosome and Gene Regular Functionement 7.3 Puzzle Pieces III: Chromosome and Gene Disfunction 7.4 Puzzle Pieces IV: Evolution 8 Sources: Bibliography and.

GM1 Gangliosidoses - an overview ScienceDirect Topic

Type 2 GM1 gangliosidosis (juvenile form) begins between ages 3 and 10, and is characterized by a plateau and then loss of previously attained motor and cognitive skills. Type 3 GM1 gangliosidosis has an age of onset during adulthood and resembles Parkinson disease with symptoms including an unsteady gait and cardiomyopathy gangliosidosis gm1. Wikipedia. Medical Information Search. All breeding stock should be tested for GM-1 storage disease or GM1 gangliosidoses, which is a fatal nerve disease that one of a family of conditions called GM1 gangliosidoses, is a recessive, genetic disorder that is inevitably fatal.It is GM1 gangliosidosis in Portuguese water dogs: pathologic and biochemical findings

GM1 gangliosidosis type 2 Genetic and Rare Diseases

Gangliosidosis disease: Malacards - Research ArticlesGm2 Gangliosidosis disease: Malacards - Research ArticlesGlb1-Related Disorders disease: Malacards - ResearchNTSAD - SupportLi OU | Assistant Professor | PhD | University ofSandhoff disease - Wikipedia
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