Detalhe da pesquisa
1.
Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
Int J Mol Sci
; 23(19)2022 Sep 28.
Artigo
Inglês
| MEDLINE | ID: mdl-36232726
2.
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
Metab Brain Dis
; 34(2): 641-649, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30570710
3.
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
J Med Genet
; 52(5): 312-6, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25670821
4.
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
Pediatr Int
; 56(4): 520-5, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24373060
5.
Polish 2012 growth references for preschool children.
Eur J Pediatr
; 172(6): 753-61, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23371392
6.
Growth patterns in patients with mucopolysaccharidosis VII.
Mol Genet Metab Rep
; 36: 100987, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37415957
7.
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Am J Med Genet A
; 158A(2): 450-4, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22246721
8.
Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status.
Acta Paediatr
; 101(4): e183-8, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22077147
9.
Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.
Orphanet J Rare Dis
; 17(1): 339, 2022 09 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36064607
10.
Long-term outcome of patients with alpha-mannosidosis - A single center study.
Mol Genet Metab Rep
; 30: 100826, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-35242565
11.
Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.
Biomolecules
; 12(3)2022 03 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35327592
12.
Anthropometric Phenotype of Patients with PMM2-CDG.
Children (Basel)
; 8(10)2021 Sep 26.
Artigo
Inglês
| MEDLINE | ID: mdl-34682117
13.
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
Clin Dysmorphol
; 30(2): 76-82, 2021 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33290290
14.
Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature.
Diagnostics (Basel)
; 10(2)2020 Feb 20.
Artigo
Inglês
| MEDLINE | ID: mdl-32093402
15.
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
JIMD Rep
; 51(1): 82-88, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-32071843
16.
International Waist Circumference Percentile Cutoffs for Central Obesity in Children and Adolescents Aged 6 to 18 Years.
J Clin Endocrinol Metab
; 105(4)2020 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31723976
17.
The importance of anthropological methods in the diagnosis of rare diseases.
J Pediatr Endocrinol Metab
; 32(4): 311-320, 2019 Apr 24.
Artigo
Inglês
| MEDLINE | ID: mdl-30917104
18.
Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.
J Appl Genet
; 60(2): 163-174, 2019 May.
Artigo
Inglês
| MEDLINE | ID: mdl-30927141
19.
Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease.
JIMD Rep
; 26: 45-51, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26253708
20.
Can Macrosomia or Large for Gestational Age Be Predictive of Mucopolysaccharidosis Type I, II and VI?
Pediatr Neonatol
; 57(3): 181-7, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26522251