Detalles de la búsqueda
1.
Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1.
Mol Genet Metab
; 138(3): 107527, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36739645
2.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A
; 191(8): 2113-2131, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37377026
3.
Intravenous 2-hydroxypropyl-ß-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trial.
Mol Genet Metab
; 137(4): 309-319, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36279795
4.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A
; 185(1): 119-133, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33098347
5.
How a concentration-effect analysis of data from the eliglustat thorough electrocardiographic study was used to support dosing recommendations.
Mol Genet Metab
; 131(1-2): 211-218, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33012655
6.
A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration.
Blood Cells Mol Dis
; 68: 185-191, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28126395
7.
The art and science of choosing efficacy endpoints for rare disease clinical trials.
Am J Med Genet A
; 176(4): 759-772, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-29423972
8.
Efficacy and safety of sevelamer carbonate in hyperphosphatemic pediatric patients with chronic kidney disease.
Pediatr Nephrol
; 33(2): 325-333, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28900759
9.
Monoallelic expression of the human FOXP2 speech gene.
Proc Natl Acad Sci U S A
; 112(22): 6848-54, 2015 Jun 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-25422445
10.
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
Mol Genet Metab
; 120(1-2): 47-56, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28040394
11.
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.
Doc Ophthalmol
; 134(2): 135-140, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28144890
12.
Response to "Unexpected mutations after CRISPR-Cas9 editing in vivo".
Nat Methods
; 15(4): 236-237, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29600989
13.
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).
Genet Med
; 18(1): 34-40, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25834946
14.
Effect of anti-laronidase antibodies on efficacy and safety of laronidase enzyme replacement therapy for MPS I: A comprehensive meta-analysis of pooled data from multiple studies.
Mol Genet Metab
; 117(4): 419-26, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26920513
15.
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Mol Genet Metab
; 118(3): 206-213, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27198631
16.
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.
Mol Genet Metab
; 116(1-2): 88-97, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26049896
17.
Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy.
Hum Mutat
; 35(7): 868-79, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24664454
18.
Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry.
Lancet
; 382(9908): 1889-97, 2013 Dec 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-24011547
19.
Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Blood Cells Mol Dis
; 77: 101-102, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31029022
20.
Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.
Mol Genet Metab
; 111(2): 209-11, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24418695