Detalhe da pesquisa
1.
Neuronal ceroid lipofuscinosis type 2: an Australian case series.
J Paediatr Child Health;
56(8): 1210-1218, 2020 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32329550
2.
ß-Mannosidosis in German Shepherd Dogs.
Vet Pathol;
56(5): 743-748, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30983534
3.
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Mol Genet Metab;
119(1-2): 160-7, 2016 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27553878
4.
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
Mol Genet Metab;
115(1): 41-7, 2015 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25892708
5.
Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.
J Paediatr Child Health;
51(3): 271-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24923490
6.
Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation.
Heart Lung Circ;
23(12): 1149-52, 2014 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25086909
7.
Diagnosing mucopolysaccharidosis IVA.
J Inherit Metab Dis;
36(2): 293-307, 2013 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23371450
8.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Circ Genom Precis Med;
16(1): e003672, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36580316
9.
Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.
Med J Aust;
197(11): 652-4, 2012 Dec 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23230938
10.
Screening patients referred to a metabolic clinic for lysosomal storage disorders.
J Med Genet;
48(6): 422-5, 2011 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21415080
11.
Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.
Pediatr Cardiol;
33(5): 827-30, 2012 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22374380
12.
What's Wrong with the Transferrin?
Clin Chem;
62(2): 413-4, 2016 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26823612
13.
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
J Med Genet;
47(9): 608-15, 2010 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20647552
14.
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
J Mol Diagn;
23(5): 589-598, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33631351
15.
Post-ictal psychosis in adolescent Niemann-Pick disease type C.
J Inherit Metab Dis;
33 Suppl 3: S63-5, 2010 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20069374
16.
The natural history and osteodystrophy of mucolipidosis types II and III.
J Paediatr Child Health;
46(6): 316-22, 2010 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20367762
17.
Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia.
BMJ Open;
9(6): e028209, 2019 06 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31209093
18.
A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement.
Cardiovasc Pathol;
35: 48-51, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29778910
19.
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Case Rep Genet;
2015: 454526, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26587300
20.
Diagnosis of lysosomal storage disorders: current techniques and future directions.
Expert Rev Mol Diagn;
4(5): 677-91, 2004 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15347261