Detalhe da pesquisa
1.
[Globoid cell leukodystrophy of adult. A first case in Poland]. / Leukodystrofia globoidalna doroslych. Pierwszy przypadek w Polsce.
Neurol Neurochir Pol
; 47(3): 278-82, 2013.
Artigo
em Polonês
| MEDLINE | ID: mdl-23821426
2.
Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up.
Acta Paediatr
; 101(1): e42-7, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21672014
3.
Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.
Clin Genet
; 80(5): 459-65, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21062272
4.
Arylsulfatase A pseudodeficiency--incidence in Poland.
Eur J Hum Genet
; 4(5): 301-3, 1996.
Artigo
em Inglês
| MEDLINE | ID: mdl-8946177
5.
Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations.
Eur J Hum Genet
; 4(6): 334-7, 1996.
Artigo
em Inglês
| MEDLINE | ID: mdl-9043866
6.
Serum chitotriosidase activity in Gaucher patients on enzyme replacement therapy (ERT).
Clin Biochem
; 31(5): 417-20, 1998 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-9721443
7.
Hyaluronidase in human somatic tissues and urine: polymorphism and the activity in diseases.
Acta Biochim Pol
; 42(1): 31-3, 1995.
Artigo
em Inglês
| MEDLINE | ID: mdl-7653157
8.
N-acetyl-beta-glucosaminidase, beta-glucuronidase and beta-galactosidase in the leukocytes, serum and urine of healthy subjects and patients with immunocytoma.
Arch Immunol Ther Exp (Warsz)
; 28(3): 503-14, 1980.
Artigo
em Inglês
| MEDLINE | ID: mdl-6778453
9.
Lysozyme in the serum, urine and peripheral blood leukocytes in patients with immunocytoma.
Arch Immunol Ther Exp (Warsz)
; 27(6): 875-88, 1979.
Artigo
em Inglês
| MEDLINE | ID: mdl-121534
10.
Mechanism of unbalanced growth-induced cell damage. I. A probable role for hydrolytic enzymes synthesis.
Chem Biol Interact
; 57(3): 315-24, 1986 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-3698120
11.
Lipidoses detected in Poland through 1993.
Pediatr Neurol
; 11(4): 295-7, 1994 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-7702688
12.
Effect of hydroxyurea treatment on lysosomal membrane stability and enzyme latency in L5178Y cells in culture.
Neoplasma
; 33(1): 27-31, 1986.
Artigo
em Inglês
| MEDLINE | ID: mdl-3960209
13.
[Pseudodeficiency of lysosomal enzymes]. / Pseudoniedobory enzymów lizosomalnych.
Neurol Neurochir Pol
; 29(1): 7-15, 1995.
Artigo
em Polonês
| MEDLINE | ID: mdl-7596481
14.
[A case of mannosidosis type II]. / Przypadek mannozydozy typu II.
Neurol Neurochir Pol
; 25(6): 797-801, 1991.
Artigo
em Polonês
| MEDLINE | ID: mdl-1811187
15.
[Prenatal diagnosis: a chance? risk? dilemma?]. / Diagnostyka prenatalna: szansa? Zagrozenie? Dylemat?
Postepy Biochem
; 36(3-4): 31-3, 1990.
Artigo
em Polonês
| MEDLINE | ID: mdl-2095555
16.
[Hyperactivity and behavioral disorders in Sanfilippo A (mucopolysaccharidosis type IIIA)--case report and review of the literature]. / Nadpobudliwosc psychoruchowa i zaburzenia behawioralne w przebiegu choroby Sanfilippo A (mukopolisacharydozy typu IIIA)--opis przypadku i przeglad pismiennictwa.
Psychiatr Pol
; 34(5): 831-7, 2000.
Artigo
em Polonês
| MEDLINE | ID: mdl-11202024
17.
[Urinary beta-hexosaminidase activity as a marker for the monitoring of sobriety]. / Aktywnosc beta-heksozoaminidazy w moczu jako maker naduzywania alkoholu u osób uzaleznionych.
Psychiatr Pol
; 29(5): 689-96, 1995.
Artigo
em Polonês
| MEDLINE | ID: mdl-8577909
18.
[Familial metachromatic leukodystrophy as a cause of psychotic manifestations in young adults]. / Rodzinna leukodystrofia metachromatyczna jako przyczyna zaburzen psychicznych u mlodych osób doroslych.
Psychiatr Pol
; 32(1): 113-9, 1998.
Artigo
em Polonês
| MEDLINE | ID: mdl-9594589
19.
[Activity of beta-hexosaminidase in serum of patients with alcoholic and nonalcoholic liver diseases]. / Aktywnosc beta-heksozoaminidazy surowicy w chorobach watroby pochodzenia alkoholowego i niealkoholowego.
Wiad Lek
; 48(1-12): 91-5, 1995.
Artigo
em Polonês
| MEDLINE | ID: mdl-9638214
20.
Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease.
Clin Biochem
; 33(2): 147-9, 2000 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-10751594