Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Hematology"
DOI: 10.1002/ajh.26276
Abstract: Eliglustat, an oral substrate reduction therapy, is approved for eligible adults with Gaucher disease type 1. In the Phase 3 ENGAGE trial of previously untreated adults with Gaucher disease type 1, eliglustat‐treated patients had statistically… read more here.
Keywords: disease type; engage trial; gaucher disease; disease ... See more keywords
Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Neurology"
DOI: 10.1002/ana.25426
Abstract: Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot–Marie–Tooth disease type 1A (CMT1A). To address this question, the Inherited Neuropathy Consortium collected a large… read more here.
Keywords: disease; charcot marie; marie tooth; tooth disease ... See more keywords
Niemann-Pick disease type C in the newborn period: a single-center experience
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-017-3020-y
Abstract: AbstractNiemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the newborn period between… read more here.
Keywords: npc; period; newborn period; pick disease ... See more keywords
Glycogen storage disease type VI: clinical course and molecular background
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-019-03499-1
Abstract: Glycogen storage disease type VI (GSD-VI; also known as Hers disease, liver phosphorylase deficiency) is caused by mutations in the gene coding for glycogen phosphorylase ( PYGL ) leading to a defect in the degradation… read more here.
Keywords: glycogen storage; storage disease; disease type; disease ... See more keywords
Beneficial effects of primidone in Niemann-Pick disease type C (NPC)-model cells and mice: Reduction of unesterified cholesterol levels in cells and extension of lifespan in mice.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of pharmacology"
DOI: 10.1016/j.ejphar.2021.173907
Abstract: Niemann-Pick disease type C (NPC) is caused by a loss of function of either NPC1 or NPC2 protein, resulting in the accumulation of unesterified, free-cholesterol (free-C) in cells/tissues and thus leading to cell/tissue damage. In… read more here.
Keywords: npc1 null; type npc; cholesterol; pick disease ... See more keywords
Recent advances in the treatment of niemann pick disease type c: a mini-review.
Sign Up to like & getrecommendations! Published in 2020 at "International journal of pharmaceutics"
DOI: 10.1016/j.ijpharm.2020.119440
Abstract: Niemann Pick disease Type C (NPC) is a recessive rare disease caused by the mutation on NPC1 and/or NPC2 genes changing the processing of the Low-density proteins (LDL) resulting in an accumulation of lipids in… read more here.
Keywords: treatment; disease; pick disease; disease type ... See more keywords
Niemann-Pick disease, type C and Roscoe Brady.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2016.11.008
Abstract: The Niemann-Pick family of diseases was poorly understood until Roscoe Brady and his colleagues began their investigations in the 1960s. Following Brady's discovery of the defect in acid sphingomyelinase in Niemann-Pick disease, types A and… read more here.
Keywords: roscoe brady; disease; pick disease; disease type ... See more keywords
A new variant in PHKA2 is associated with glycogen storage disease type IXa
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2017.01.003
Abstract: Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were… read more here.
Keywords: type ixa; glycogen storage; phka2; type ... See more keywords
Use of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100536
Abstract: Background Glycogen storage disease type I (GSDI) is caused by deficiency of the enzyme glucose-6-phosphatase or glucose-6-phosphate transporter. Mainstay of treatment is provision of uncooked cornstarch (and/or continuous nocturnal pump feed (CNPF) to maintain normoglycemia).… read more here.
Keywords: glycogen storage; treatment; wmhms; waxy maize ... See more keywords
Antagonistic Activity of Naphthoquinone-Based Hybrids toward Amyloids Associated with Alzheimer's Disease and Type-2 Diabetes.
Sign Up to like & getrecommendations! Published in 2019 at "ACS chemical neuroscience"
DOI: 10.1021/acschemneuro.9b00123
Abstract: Protein misfolding and amyloid formation are associated with various human diseases including Alzheimer's disease (AD), Parkinson's disease (PD), and Type-2 Diabetes mellitus (T2DM). No disease-modifying therapeutics are available for them. Despite the lack of sequence… read more here.
Keywords: hybrid molecules; alzheimer disease; disease; formation ... See more keywords
Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-00898-7
Abstract: Niemann-Pick disease type C (NP-C) (OMIM#257220) is a rare lysosomal storage disorder caused by pathogenic variants in either the NPC1 or NPC2 genes. It manifests with a wide spectrum of clinical symptoms and variable age… read more here.
Keywords: niemann pick; variant; disease type; pick disease ... See more keywords