Detalles de la búsqueda
1.
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.
Mol Genet Metab
; 142(3): 108512, 2024 Jun 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38870773
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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