Detalhe da pesquisa
1.
Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report.
BMC Pediatr
; 21(1): 146, 2021 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33773571
2.
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
J Inherit Metab Dis
; 39(5): 697-704, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106217
3.
Procreation in families with inborn error of metabolism--new challenges for medical care.
Dev Period Med
; 19(4): 519-22, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982765
4.
Clinical and molecular characteristics of two transaldolase-deficient patients.
Eur J Pediatr
; 173(12): 1679-82, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24497183
5.
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.
Genes (Basel)
; 13(5)2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627187
6.
Treatment of classic phenylketonuria in Poland in the years 2009-2015 based on the database of the Polish National Health Fund.
Pediatr Endocrinol Diabetes Metab
; 26(3): 118-124, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32901468
7.
Transaldolase deficiency in two new patients with a relative mild phenotype.
Mol Genet Metab
; 97(1): 15-7, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19299175
8.
Remodelling of skeletal muscle cells in children with SCO2 gene mutation - ultrastructural study.
Folia Neuropathol
; 47(1): 20-32, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19353431
9.
Medical care of patients with disorders of aromatic amino acid metabolism: a report based on the Polish National Health Fund data records.
Pediatr Endocrinol Diabetes Metab
; 2018(3): 118-125, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30786676
10.
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
J Appl Genet
; 52(1): 61-6, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21107780
11.
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.
Eur J Paediatr Neurol
; 14(3): 253-60, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19879173
12.
[Maple Syrup Urine Disease in a newborn infant]. / Choroba syropu klonowego u noworodka.
Med Wieku Rozwoj
; 11(1): 65-8, 2007.
Artigo
em Polonês
| MEDLINE | ID: mdl-17965467
13.
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
Mol Genet Metab
; 79(3): 149-59, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12855219
14.
Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland.
Pediatr Int
; 45(2): 199-200, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12709150