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List of works by Maria Giżewska

Adherence issues in inherited metabolic disorders treated by low natural protein diets.

scientific article published on 03 December 2012

Bone mineral density is within normal range in most adult phenylketonuria patients

scientific article published on 06 February 2020

Can untreated PKU patients escape from intellectual disability? A systematic review

scientific article published on 29 August 2018

Congenital nasolacrimal duct mucocele--a case report.

scientific article published in March 2010

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

scientific article

Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene.

scientific article published in February 2003

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

scientific article published on 18 April 2016

Early feeding practices in infants with phenylketonuria across Europe

article

Estimation of influence of congenital-adrenal hyperplasia treatment on bone mineralisation evaluated with densitometry

scientific article published on 01 January 2012

Expanding Cyst of the Septum Pellucidum - Endoscopic Observations on the Mechanism of Development and Results of Treatment

scientific article published on 05 March 2020

Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.

scientific article published on 09 September 2013

Impact of lipophilic antioxidants and level of antibodies against oxidized low-density lipoprotein in Polish children with phenylketonuria.

scientific article published on 6 September 2011

Incomplete expression of Klippel-Trenaunay syndrome

scientific article published on 01 October 2012

Issues with European guidelines for phenylketonuria - Authors' reply.

scientific article published in September 2017

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

scientific article published on 9 January 2017

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

scientific article published on 24 March 2018

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness

scientific article

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

scientific article published on February 2009

Mucopolysaccharidosis and organ of sight

scientific article published in January 2013

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

scientific article

Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia

scientific article published on 01 January 1999

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

scientific article published on 16 October 2020

Niedoczynność przytarczyc, niedosłuch czuciowo-nerwowy i choroby nerek – zespół Barakata u 10-miesięcznego niemowlęcia – opis przypadku

scientific article published in September 2016

Noncystic white matter injury--a case report.

scientific article published in October 2007

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism

scientific article (publication date: May 2005)

Nutrition education tools used in phenylketonuria: clinician, parent and patient perspectives from three international surveys.

scientific article

Ocular findings in MELAS syndrome – a case report

scientific article published in January 2016

Phenylketonuria patients' and their parents' acceptance of the disease: multi-centre study.

scientific article published on 31 May 2016

Phenylketonuria patients' and their parents' knowledge and attitudes to the daily diet - multi-centre study.

scientific article

Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.

scientific article published on 26 March 2015

Pregnancy delivery and puerperium in a patient with lysinuric protein intolerance--a case report.

scientific article published in July 2013

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders.

scientific article published on 28 March 2018

Rare indication for cardioverter‑defibrillator implantation: propionic acidemia complicated by dilated cardiomyopathy and prolonged QT interval

scientific article published on 24 May 2019

Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.

scientific article

The Genetic Landscape and Epidemiology of Phenylketonuria

scientific article published on 01 July 2020

The challenges of managing coexistent disorders with phenylketonuria: 30 cases.

scientific article published on 9 October 2015

The complete European guidelines on phenylketonuria: diagnosis and treatment.

scientific article published on 12 October 2017

The role of magnetic resonance imaging in early prediction of cerebral palsy

scientific article published in May 2010

The role of ophthalmological examination in the diagnosis of gangliosidosis GM1

scientific article published on January 1, 2011

The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome

scientific article published in March 2014

Therapeutic effect of a cleft lip teat on infants with respiratory and feeding disorders: Two case reports

scientific article published on 01 August 2018

Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls

scientific article published on 24 April 2007

[Endoscope-guided placement of the ventriculoperitoneal shunt: technique and applications].

scientific article

[Impact of delivery type on EGF and IGF-1 concentration in umbilical blood of newborns and their mothers' milk]

scientific article published on 01 November 2004

[Novel PKU treatment methods]

scientific article published on 01 July 2002

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