Giżewska, Maria 1961-
M Giżewska
VIAF ID: 265055598 (Personal)
Permalink: http://viaf.org/viaf/265055598
Preferred Forms
- 100 1 _ ‡a Giżewska, Maria ‡d 1961-
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- 100 1 _ ‡a Giżewska, Maria ‡d 1961-
- 100 0 _ ‡a M Giżewska
4xx's: Alternate Name Forms (5)
5xx's: Related Names (1)
Works
Title | Sources |
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Adherence issues in inherited metabolic disorders treated by low natural protein diets. | |
Artrogrypoza, pre- i postnatalne różnicowanie : przypadek kliniczny zespołu Pena-Shokeir | |
Bone mineral density is within normal range in most adult phenylketonuria patients | |
Can untreated PKU patients escape from intellectual disability? A systematic review | |
The challenges of managing coexistent disorders with phenylketonuria: 30 cases. | |
The complete European guidelines on phenylketonuria: diagnosis and treatment. | |
Congenital nasolacrimal duct mucocele--a case report. | |
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures | |
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results | |
Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene. | |
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. | |
Dysplazja obojczykowo-czaszkowa u 15-miesięcznego chłopca i 14-letniej dziewczynki : prezentacja kliniczna i obraz radiologiczny | |
Early feeding practices in infants with phenylketonuria across Europe | |
[Endoscope-guided placement of the ventriculoperitoneal shunt: technique and applications]. | |
[Estimation of influence of congenital-adrenal hyperplasia treatment on bone mineralisation evaluated with densitometry] | |
Expanding Cyst of the Septum Pellucidum - Endoscopic Observations on the Mechanism of Development and Results of Treatment | |
Fenyloketonuria : wybrane aspekty genetyczne i następstwa hiperfenyloalaninemii | |
Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes. | |
The Genetic Landscape and Epidemiology of Phenylketonuria | |
[Impact of delivery type on EGF and IGF-1 concentration in umbilical blood of newborns and their mothers' milk] | |
Impact of lipophilic antioxidants and level of antibodies against oxidized low-density lipoprotein in Polish children with phenylketonuria. | |
Incomplete expression of Klippel-Trenaunay syndrome | |
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness | |
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. | |
Mucopolysaccharidosis and organ of sight | |
Mukopolisacharydoza a narząd wzroku | |
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia | |
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans | |
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration | |
Niedoczynność przytarczyc, niedosłuch czuciowo-nerwowy i horoby nerek - zespół Barakata u 10-miesięcznego niemowlęciea : opis przypadku = Hypoparathyroidism, sensrineural deafness and renal disease - Bakarat syndrome in a 10-month old infant : case report | |
Noncystic white matter injury--a case report. | |
[Novel PKU treatment methods] | |
Nowe kierunki w leczeniu fenyloketonurii | |
Nutrition education tools used in phenylketonuria: clinician, parent and patient perspectives from three international surveys. | |
Ocena efektów leczenia fenyloketonurii z analizą czynników wpływających na jakość życia chorych = The evaluation of phenylketonuria treatment results with the analysis of factors influencing the quality of life of affected individuals | |
Ocena realizacji zaleceń żywieniowych oraz profilu lipidowego w surowicy krwi dzieci chorych na fenyloketonurię | |
Ocena wpływu leczenia pacjentów z wrodzonym przerostem nadnerczy na masę kostną określoną badaniem densytometrycznym | |
Ocena związku pomiędzy wyrównaniem metabolicznym i wybranymi parametrami gospodarki lipidowej a stanem tkanki kostnej u chorych na fenyloketonurię | |
Ocular findings in MELAS syndrome – a case report | |
Phenylketonuria patients' and their parents' knowledge and attitudes to the daily diet - multi-centre study. | |
Phenyloketonuria : selected genetic aspects and sequelae of hyperphenylalaninemia | |
Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach. | |
Pregnancy, delivery and puerperium in a patient with lysinuric protein intolerance : a case report | |
Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders. | |
Prenatal suggestion of Pena-Shokeir I syndrome postnatally confirmed | |
Rare indication for cardioverter‑defibrillator implantation: propionic acidemia complicated by dilated cardiomyopathy and prolonged QT interval | |
Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. | |
The role of magnetic resonance imaging in early prediction of cerebral palsy | |
[The role of ophthalmological examination in the diagnosis of gangliosidosis GM1]. | |
The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome | |
Stężenie czynnika wzrostu nabłonka (EGF) w krwi pępowinowej noworodków urodzonych przedwcześnie oraz w mleku ich matek | |
Stridor jako jeden z objawów zespołu delecji 5p u 5-miesięcznego dziecka = Stridor as one of the symptoms of 5p deletion syndrome in a five-month-old-child | |
Therapeutic effect of a cleft lip teat on infants with respiratory and feeding disorders: Two case reports | |
Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls | |
Trudności diagnostyczne w rozpoznawaniu krwawień do nadnerczy | |
Wpływ zaburzeń metylacji centrów imprintingowych ICR1 i ICR2 regionu 11P15 na fenotyp zespołu Bekwitha i Wiedemanna | |
Wrodzony przerost nadnerczy u noworodka | |
Wybrane wrodzone wady metabolizmu | |
Znaczenie badania okulistycznego w rozpoznawaniu gangliozydozy GM1 | |
Znaczenie badania tomografii rezonansu magnetycznego mózgowia w diagnostyce deficytu kinazy pantotenowej (dawniej choroby Hallervordena-Spatza) : opis przypadku |