Detalles de la búsqueda
1.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Mol Genet Metab
; 138(3): 107525, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36796138
2.
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.
Mol Genet Metab
; 130(3): 209-214, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32418857
3.
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 21(4): 772-789, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30659246
4.
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Genet Med
; 17(11): 912-8, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25741864
5.
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Genet Med
; 16(11): e1, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25356975
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-24389071
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-22252923
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-22252961
9.
A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
Mol Genet Metab
; 105(3): 519-21, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22227323
10.
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.
Front Genet
; 13: 1001154, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36246652
11.
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?
Mol Genet Metab Rep
; 31: 100856, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35782603
12.
Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.
Mol Genet Metab
; 103(2): 107-12, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21397538
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-21484825
15.
The electrodiagnostic characteristics of Glycogen Storage Disease Type III.
Genet Med
; 12(7): 440-5, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20071996
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-20648714
17.
Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.
Genet Med
; 12(7): 413-23, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20526204
18.
CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Genet Med
; 17(7): 596, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-26133565
19.
Glycogen storage disease type III diagnosis and management guidelines.
Genet Med
; 12(7): 446-63, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20631546
20.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-20058079