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About 1,963 results

ALLMedicine™ Lysosomal Storage Disease Center

Research & Reviews  975 results

Glycogen accumulation in smooth muscle of a Pompe disease mouse model.
https://doi.org/10.1540/jsmr.57.8
Journal of Smooth Muscle Research = Nihon Heikatsukin Gak... McCall AL, Dhindsa JS et. al.

Apr 22nd, 2021 - Pompe disease is a lysosomal storage disease caused by mutations within the GAA gene, which encodes acid α-glucosidase (GAA)-an enzyme necessary for lysosomal glycogen degradation. A lack of GAA results in an accumulation of glycogen in cardiac an...

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 di...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059011
Orphanet Journal of Rare Diseases; Mole SE, Schulz A et. al.

Apr 22nd, 2021 - CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting s...

Assessing the integrity of auditory processing and sensory memory in adults with cystin...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045394
Orphanet Journal of Rare Diseases; Francisco AA, Berruti AS et. al.

Apr 14th, 2021 - Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other orga...

Testicular function in males with infantile nephropathic cystinosis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8058591
Human Reproduction (Oxford, England); Rohayem J, Haffner D et. al.

Apr 6th, 2021 - Do males with the rare lysosomal storage disease infantile nephropathic cystinosis (INC) have a chance of biological fatherhood? Cryostorage of semen could be an option for approximately 20% of young males with INC, with surgical sperm retrieval f...

Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurod...
https://doi.org/10.1002/mgg3.1677
Molecular Genetics & Genomic Medicine; Park JH, Ko JM et. al.

Apr 3rd, 2021 - Tay-Sachs disease (TSD) is a lysosomal storage disease caused by mutations in the HEXA gene that encodes the HexosaminidaseA (HEXA) enzyme. As HEXA normally functions to degrade the protein GM2-ganglioside in lysosomes, decreased levels of HEXAcau...

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Guidelines  1 results

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic in...
https://doi.org/10.1097/GIM.0b013e318211a7e1
Genetics in Medicine : Official Journal of the American C... Wang RY, Bodamer OA et. al.

Apr 19th, 2011 - To develop educational guidelines for the diagnostic confirmation and management of individuals identified by newborn screening, family-based testing after proband identification, or carrier testing in at-risk populations, and subsequent prenatal ...

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Drugs  1 results see all →

Clinicaltrials.gov  983 results

Glycogen accumulation in smooth muscle of a Pompe disease mouse model.
https://doi.org/10.1540/jsmr.57.8
Journal of Smooth Muscle Research = Nihon Heikatsukin Gak... McCall AL, Dhindsa JS et. al.

Apr 22nd, 2021 - Pompe disease is a lysosomal storage disease caused by mutations within the GAA gene, which encodes acid α-glucosidase (GAA)-an enzyme necessary for lysosomal glycogen degradation. A lack of GAA results in an accumulation of glycogen in cardiac an...

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 di...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059011
Orphanet Journal of Rare Diseases; Mole SE, Schulz A et. al.

Apr 22nd, 2021 - CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting s...

Assessing the integrity of auditory processing and sensory memory in adults with cystin...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045394
Orphanet Journal of Rare Diseases; Francisco AA, Berruti AS et. al.

Apr 14th, 2021 - Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other orga...

Testicular function in males with infantile nephropathic cystinosis.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8058591
Human Reproduction (Oxford, England); Rohayem J, Haffner D et. al.

Apr 6th, 2021 - Do males with the rare lysosomal storage disease infantile nephropathic cystinosis (INC) have a chance of biological fatherhood? Cryostorage of semen could be an option for approximately 20% of young males with INC, with surgical sperm retrieval f...

Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurod...
https://doi.org/10.1002/mgg3.1677
Molecular Genetics & Genomic Medicine; Park JH, Ko JM et. al.

Apr 3rd, 2021 - Tay-Sachs disease (TSD) is a lysosomal storage disease caused by mutations in the HEXA gene that encodes the HexosaminidaseA (HEXA) enzyme. As HEXA normally functions to degrade the protein GM2-ganglioside in lysosomes, decreased levels of HEXAcau...

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News  3 results

An Infant With Poor Visual Response
https://www.medscape.com/viewarticle/827671_2

Jul 8th, 2014 - Case Diagnosis The presence of bilateral cherry-red spots, failure to thrive, developmental delays, and hypotonia suggests a lysosomal storage disease. Genetic evaluation is critical for diagnosis. This patient was found to have abnormalities in h...

CHMP Backs Elosulfase Alfa (Vimizim) for Rare Morquio A Syndrome
https://www.medscape.com/viewarticle/820959

Feb 20th, 2014 - The European Medicine Agency's (EMA's) Committee for Medicinal Products for Human Use (CHMP) has recommended approval of elosulfase alfa (Vimizim, BioMarin Europe Ltd) for treatment of mucopolysaccharidosis type IVA (Morquio A syndrome) in patient...

FDA Clears the First Drug for Rare Morquio A Syndrome
https://www.medscape.com/viewarticle/820677

Feb 13th, 2014 - The US Food and Drug Administration (FDA) today approved the first drug for mucopolysaccharidosis type IVA (Morquio A Syndrome), a rare, autosomal recessive lysosomal storage disease caused by a deficiency in N-acetylgalactosamine-6-sulfate sulfat...

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