Detalhe da pesquisa
1.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Mol Genet Metab
; 140(1-2): 107715, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37907381
2.
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.
Genet Med
; 22(4): 785-792, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31754268
3.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Genet Med
; 21(11): 2543-2551, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31086307
4.
The progression of the ClinGen gene clinical validity classification over time.
Hum Mutat
; 39(11): 1494-1504, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30311372
5.
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mol Genet Metab
; 122(4): 189-197, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29122469
6.
New observation of sialuria prompts detection of liver tumor in previously reported patient.
Mol Genet Metab
; 118(2): 92-9, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27142465
7.
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Mol Genet Metab
; 111(3): 309-313, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24389071
8.
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Annu Rev Biomed Data Sci
; 2024 Apr 25.
Artigo
Inglês
| MEDLINE | ID: mdl-38663031
9.
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
Mol Genet Metab
; 109(2): 215-7, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23583224
10.
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Am J Med Genet C Semin Med Genet
; 160C(1): 40-9, 2012 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22252923
11.
Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.
Am J Med Genet C Semin Med Genet
; 160C(1): 50-8, 2012 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22252961
12.
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Genome Med
; 14(1): 6, 2022 01 18.
Artigo
Inglês
| MEDLINE | ID: mdl-35039090
13.
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
Mol Genet Metab
; 104(4): 691-4, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21911307
14.
Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
Muscle Nerve
; 43(5): 665-70, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21484825
15.
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
Genet Med
; 12(7): 424-30, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20648714
16.
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
J Inherit Metab Dis
; 33 Suppl 3: S83-90, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20058079
17.
Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.
Muscle Nerve
; 49(5): 775-6, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24338800
18.
Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.
J Pediatr Gastroenterol Nutr
; 55(1): 90-2, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21857251
19.
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.
JIMD Rep
; 37: 63-72, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28283841
20.
Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.
Mol Genet Metab Rep
; 5: 76-79, 2015 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26693141