Lista de obras - M Giżewska - Dominio Público Uruguay

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

artículo científico

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Congenital nasolacrimal duct mucocele--a case report.

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado el 1 de enero de 2012

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

artículo científico publicado en 2020

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

artículo científico

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

artículo científico publicado en 2011

Incomplete expression of Klippel-Trenaunay syndrome

artículo científico publicado en 2012

Issues with European guidelines for phenylketonuria - Authors' reply.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

Mucopolysaccharidosis and organ of sight

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Noncystic white matter injury--a case report.

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

Ocular findings in MELAS syndrome – a case report

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2008

The Genetic Landscape and Epidemiology of Phenylketonuria

scientific article published on 01 July 2020

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

artículo científico publicado en 2015

The complete European guidelines on phenylketonuria: diagnosis and treatment.

artículo científico publicado en 2017

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

artículo científico publicado en 2010

The role of ophthalmological examination in the diagnosis of gangliosidosis GM1

artículo científico publicado el 1 de enero de 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

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

[Novel PKU treatment methods]

scientific article published on 01 July 2002

Lista de obras de M Giżewska

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

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

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

Congenital nasolacrimal duct mucocele--a case report.

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.

Early feeding practices in infants with phenylketonuria across Europe

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

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

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

Incomplete expression of Klippel-Trenaunay syndrome

Issues with European guidelines for phenylketonuria - Authors' reply.

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

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

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

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

Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia

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 choroby nerek – zespół Barakata u 10-miesięcznego niemowlęcia – opis przypadku

Noncystic white matter injury--a case report.

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

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

Ocular findings in MELAS syndrome – a case report

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

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

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.

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 Genetic Landscape and Epidemiology of Phenylketonuria

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

The complete European guidelines on phenylketonuria: diagnosis and treatment.

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

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

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

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

[Novel PKU treatment methods]