Detalhe da pesquisa
1.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
2.
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Cell Mol Life Sci
; 79(6): 305, 2022 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593933
3.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
4.
Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.
Adv Exp Med Biol
; 878: 73-82, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26453071
5.
Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach.
Adv Exp Med Biol
; 837: 1-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25310959
6.
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Ann Neurol
; 71(4): 520-30, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522443
7.
Dietary Intake and Circulating Amino Acid Concentrations in Relation with Bone Metabolism Markers in Children Following Vegetarian and Omnivorous Diets.
Nutrients
; 15(6)2023 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36986105
8.
Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.
Am J Med Genet B Neuropsychiatr Genet
; 159B(2): 236-42, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22223473
9.
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
10.
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.
J Inherit Metab Dis
; 34(1): 185-95, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21103935
11.
Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene.
Diagnostics (Basel)
; 10(10)2020 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33066491
12.
Doppler velocimetry of the materno-fetal circulation in preterm delivered pregnancies complicated with hypertension.
Neuro Endocrinol Lett
; 30(3): 403-8, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19855368
13.
[Feto-placental blood flow--practical remarks]. / Zaburzenia przeplywu lozyskowego--praktyczne zastosowanie kliniczne.
Przegl Lek
; 66(7): 394-402, 2009.
Artigo
em Polonês
| MEDLINE | ID: mdl-20043583
14.
Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.
Folia Neuropathol
; 46(1): 81-91, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18368630
15.
Clinico-pathological correlation in case of BRAT1 mutation.
Folia Neuropathol
; 56(4): 362-371, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30786674
16.
Serum amino acid profile in patients with Parkinson's disease.
PLoS One
; 13(1): e0191670, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29377959
17.
Adenylosuccinate lyase deficiency: the first identified polish patient.
Brain Dev
; 29(9): 600-2, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17485188
18.
Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines.
Respir Physiol Neurobiol
; 209: 124-32, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25514185
19.
The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.
Biomed Res Int
; 2014: 424796, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24949445
20.
Behavioral and intellectual functioning in patients with tyrosinemia type I.
Pediatr Endocrinol Diabetes Metab
; 18(3): 96-100, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23146787