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About 1,462 results

ALLMedicine™ Pick Disease Center

Research & Reviews  713 results

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in...
https://doi.org/10.1038/s41431-021-00898-7 10.1016/j.ymgme.2012.03.012 10.1016/j.febslet.2006.06.008 10.1007/s00415-014-7382-z 10.1186/s13023-018-0785-7 10.1186/s13023-014-0140-6 10.1038/gim.2015.25 10.1186/1750-1172-8-35 10.1016/bs.mcb.2014.10.028 10.1097/GIM.0b013e3181ead634 10.1167/iovs.17-22398 10.1007/s004399900222 10.1016/j.nmd.2017.04.003
European Journal of Human Genetics : EJHG; Bychkov I, Filatova A et. al.

May 7th, 2021 - 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 of onset. We studied the ...

Interstitial lung disease in lysosomal storage disorders.
https://doi.org/10.1183/16000617.0363-2020
European Respiratory Review : an Official Journal of the ... Borie R, Crestani B et. al.

Apr 30th, 2021 - Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases caused by mutations affecting genes that encode the function of the lysosom...

Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in D...
https://doi.org/10.1016/j.spen.2021.100879
Seminars in Pediatric Neurology; Berry-Kravis E

Apr 24th, 2021 - Niemann-Pick disease, type C (NPC) is a highly heterogeneous rare neurovisceral storage disease with early infantile, late infantile, juvenile and adult onset forms, and relentlessly progressive neurodegeneration leading to death. Vertical supranu...

Differential mode of cholesterol inclusion with 2-hydroxypropyl-cyclodextrins impacts s...
https://doi.org/10.1111/bph.15464
British Journal of Pharmacology; Yamada Y, Ishitsuka Y et. al.

Mar 30th, 2021 - Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with disrupted intracellular cholesterol trafficking. A cyclic heptasaccharide, 2-hydroxypropyl-β-cyclodextrin (HP-β-CD), is a cholesterol solubilizer that is being developed to tre...

Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niema...
https://doi.org/10.1097/MPH.0000000000002135
Journal of Pediatric Hematology/oncology; Cervera Bravo A, Osuna Marco MP et. al.

Mar 4th, 2021 - Atypical microcytic anemias are rare diseases of iron/heme metabolism that can be diagnostically challenging. We report the case of a 2-year-old twin boy with neurodevelopmental delay and persistent microcytosis in whom atypical microcytic anemias...

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Clinicaltrials.gov  733 results

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in...
https://doi.org/10.1038/s41431-021-00898-7 10.1016/j.ymgme.2012.03.012 10.1016/j.febslet.2006.06.008 10.1007/s00415-014-7382-z 10.1186/s13023-018-0785-7 10.1186/s13023-014-0140-6 10.1038/gim.2015.25 10.1186/1750-1172-8-35 10.1016/bs.mcb.2014.10.028 10.1097/GIM.0b013e3181ead634 10.1167/iovs.17-22398 10.1007/s004399900222 10.1016/j.nmd.2017.04.003
European Journal of Human Genetics : EJHG; Bychkov I, Filatova A et. al.

May 7th, 2021 - 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 of onset. We studied the ...

Interstitial lung disease in lysosomal storage disorders.
https://doi.org/10.1183/16000617.0363-2020
European Respiratory Review : an Official Journal of the ... Borie R, Crestani B et. al.

Apr 30th, 2021 - Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases caused by mutations affecting genes that encode the function of the lysosom...

Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in D...
https://doi.org/10.1016/j.spen.2021.100879
Seminars in Pediatric Neurology; Berry-Kravis E

Apr 24th, 2021 - Niemann-Pick disease, type C (NPC) is a highly heterogeneous rare neurovisceral storage disease with early infantile, late infantile, juvenile and adult onset forms, and relentlessly progressive neurodegeneration leading to death. Vertical supranu...

Differential mode of cholesterol inclusion with 2-hydroxypropyl-cyclodextrins impacts s...
https://doi.org/10.1111/bph.15464
British Journal of Pharmacology; Yamada Y, Ishitsuka Y et. al.

Mar 30th, 2021 - Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with disrupted intracellular cholesterol trafficking. A cyclic heptasaccharide, 2-hydroxypropyl-β-cyclodextrin (HP-β-CD), is a cholesterol solubilizer that is being developed to tre...

Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niema...
https://doi.org/10.1097/MPH.0000000000002135
Journal of Pediatric Hematology/oncology; Cervera Bravo A, Osuna Marco MP et. al.

Mar 4th, 2021 - Atypical microcytic anemias are rare diseases of iron/heme metabolism that can be diagnostically challenging. We report the case of a 2-year-old twin boy with neurodevelopmental delay and persistent microcytosis in whom atypical microcytic anemias...

see more →

News  9 results

National Niemann-Pick Disease Foundation Seeks Executive Director
https://www.mdedge.com/pediatrics/article/155750/rare-diseases/national-niemann-pick-disease-foundation-seeks-executive

Jan 8th, 2018 - The board of the National Niemann-Pick Disease Foundation (NNPDF) is searching for an executive director. Founded 25 years ago, the NNPDF supports patients and families affected by Niemann-Pick disease, a rare disease affecting fewer than 1,000 pa.

Experimental Drug Slows Niemann-Pick Disease
https://www.mdedge.com/fedprac/article/146744/neurology/experimental-drug-slows-niemann-pick-disease
Jan Dyer

Sep 5th, 2017 - “Encouraging” results from a study with an experimental drug offer hope to patients with Niemann-Pick disease type C1 (NPC1), a fatal neurologic disease that affects children and adolescents. Symptoms of NPC1 result from cholesterol building in br.

FDA grants breakthrough therapy designation to Genzyme's Olipudase Alfa
https://www.reuters.com/article/us-sanofi-fda/fda-grants-breakthrough-therapy-designation-to-genzymes-olipudase-alfa-idUSKBN0OK0CT20150604

Jun 4th, 2015 - PARIS (Reuters) - Sanofi and its subsidiary Genzyme said on Thursday that the U.S. Food and Drug Administration (FDA) has granted breakthrough therapy designation to olipudase alfa. This enzyme replacement therapy is being investigated for the tre...

Oral Health Management in the Patient With Dementia
https://www.medscape.com/viewarticle/743030_2

May 23rd, 2011 - Dementia Defined Dementia is the loss, usually progressive, of cognitive and intellectual functions without impairment of perception or consciousness. It is not a disease in and of itself but a symptom or group of symptoms that can manifest as a c...

Preimplantation Genetic Diagnosis and Screening
https://www.mdedge.com/obgyn/article/49127/preimplantation-genetic-diagnosis-and-screening/page/0/1

If our patients have Southeast Asian ancestry, we should consider α-thalassemia (1 in 30), and for patients with Mediterranean ancestry, β-thalassemia. For patients of Ashkenazi Jewish ancestry, genetic screening is performed routinely for the anc.

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Patient Education  7 results see all →