Detalhe da pesquisa
1.
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Am J Med Genet A
; 185(11): 3494-3501, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34467644
2.
Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.
BMC Pediatr
; 21(1): 578, 2021 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915869
3.
Intrathecal baclofen in mucopolysaccharidosis type II (Hunter syndrome): case report.
Childs Nerv Syst
; 34(11): 2325-2327, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29860540
4.
The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis.
Neuro Endocrinol Lett
; 37(5): 353-360, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28171221
5.
TMEM70 deficiency: long-term outcome of 48 patients.
J Inherit Metab Dis
; 38(3): 417-26, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326274
6.
[Historical aspects of the Smith-Lemli-Opitz syndrome]. / Historické aspekty Smithovho-Lemliho-Opitzovho syndrómu.
Cas Lek Cesk
; 153(1): 36-9, 2014.
Artigo
em Tcheco
| MEDLINE | ID: mdl-24506692
7.
Cataract and early nystagmus due to galactokinase deficiency.
J Inherit Metab Dis
; 40(5): 749-750, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28429145
8.
Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.
J Inherit Metab Dis
; 38(3): 583-4, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25778942
9.
Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic.
Neuro Endocrinol Lett
; 31 Suppl 2: 5-7, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21187823
10.
SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.
Mol Genet Metab Rep
; 25: 100636, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32884905
11.
Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease.
Genet Med
; 11(4): 256-64, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19265719
12.
Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn.
Neuro Endocrinol Lett
; 30 Suppl 1: 29-31, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20027140
13.
Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency.
Neuro Endocrinol Lett
; 29(5): 627-30, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18987586
14.
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.
Diabetes Res Clin Pract
; 126: 144-150, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28242437
15.
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Hum Mutat
; 27(4): 343-52, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16450403
16.
Lack of association between peripheral activity of thyroid hormones and elevated TSH levels in childhood obesity.
J Clin Res Pediatr Endocrinol
; 6(2): 100-4, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24932603
17.
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
J Hum Genet
; 52(4): 342-348, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17387578