Lista de obras - Elzbieta Jurkiewicz - Dominio Público Uruguay

"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.

artículo científico publicado en 2013

1324 FAT DISTRIBUTION, LIPIDS AND INFLAMMATORY ACTIVITY CORRELATE WITH LIPID INFILTRATION OF THE LIVER IN OBESE/OVERWEIGHT CHILDREN

A Pharmacokinetics, Efficacy, and Safety Study of Gadoterate Meglumine in Pediatric Subjects Aged Younger Than 2 Years

artículo científico publicado en 2017

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

artículo científico publicado en 2011

Accuracy of intraoperative registration during electromagnetic neuronavigation in intracranial procedures performed in children.

artículo científico publicado en 2007

Acute fright induces onset of symptoms in vanishing white matter disease-case report

artículo científico publicado en 2006

Adenylosuccinate lyase deficiency: the first identified polish patient

artículo científico publicado en 2007

Angiocentric glioma: a rare intractable epilepsy-related tumour in children.

artículo científico publicado en 2014

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex.

artículo científico publicado en 2011

Apparent diffusion coefficient is increased in children with tuberous sclerosis complex personal experience and review of the literature.

artículo científico publicado en 2007

Arterial hypertension with brachydactyly in a 15-year-old boy.

artículo científico publicado en 2003

Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.

artículo científico publicado en 2013

Basal ganglia lesions in children and adults

artículo científico publicado en 2013

Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease

artículo científico publicado en 2015

Blood pressure rhythmicity and visceral fat in children with hypertension.

artículo científico publicado en 2013

Brain MRI in fetuses with cardiac tumours

artículo científico publicado en 2007

Brain Metastases from Ewing's Sarcoma. A Report of Two Cases and Review of the Literature.

artículo científico publicado en 2009

CRAN-06. CHILDREN WITH PINEOBLASTOMA. A SINGLE-INSTITUTION SERIES

Cerebellar lesions in children with tuberous sclerosis complex

artículo científico publicado en 2006

Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex.

artículo científico publicado en 2011

Cervical spine MRI findings in patients with Mucopolysaccharidosis type II.

artículo científico publicado en 2015

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

artículo científico publicado en 2018

Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.

artículo científico publicado en 2013

Congenital CNS tumors diagnosed on prenatal MRI

artículo científico publicado en 2011

Congenital brain tumors in a series of 56 patients.

artículo científico publicado en 2012

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

artículo científico publicado en 2016

Congenital intramedullary spinal cord tumours: a report of two cases

artículo científico publicado en 2011

Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.

artículo científico publicado en 2014

Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours

artículo científico publicado en 2015

Cyst-like cortical tubers in patients with tuberous sclerosis complex: MR imaging with the FLAIR sequence.

artículo científico publicado en 2006

Developmental anomalies of the nervous system in ultrasonography and CT images

artículo científico publicado en 1986

Direct trans-sylvian approach to the ventrolateral pons in surgical management of large cystic cavernous malformations of the brain stem in children

artículo científico publicado en 2003

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

artículo científico publicado en 2018

EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients - a prospective study of 5 patients.

artículo científico publicado en 2013

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

artículo científico publicado en 2018

Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature

artículo científico publicado en 2015

Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex.

artículo científico publicado en 2011

Enzyme Replacement Therapy in an Attenuated Case of Mucopolysaccharidosis Type I (Scheie Syndrome): A 6.5-Year Detailed Follow-Up ⬇️

artículo científico publicado el 1 de diciembre de 2012

Epilepsy in newborns with tuberous sclerosis complex.

artículo científico publicado en 2014

Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.

artículo científico publicado en 2017

Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy

scientific article published on 16 September 2011

Germinoma Mimicking Brain Inflammation: A Case Report

artículo científico publicado en 2019

Giant cerebellar cavernous malformation in 4-month-old boy. Case report and review of the literature.

artículo científico publicado en 2013

Giant intracranial aneurysm in a 9-year-old boy with tuberous sclerosis

scientific article published on 14 March 2006

High Grade Gliomas and DIPG

scholarly article

In vitro anti-HIV-1 activity of chondroitin polysulphate

artículo científico publicado en 1989

Infantile spasms and cytomegalovirus infection: antiviral and antiepileptic treatment

scientific article published on 01 September 2007

Infratentorial tumors in children - value of ADC in prediction of grade of neoplasms ⬇️

artículo científico publicado el 1 de octubre de 2010

Intracerebroventricular Transplantation of Cord Blood-Derived Neural Progenitors in a Child With Severe Global Brain Ischemic Injury

artículo científico publicado en 2010

LG-35LOW GRADE GLIOMAS (LGG) IN INFANTS - ONE INSTITUTION EXPERIENCE.

artículo científico publicado en 2016

LG-45DISSEMINATED LOW GRADE GLIOMAS IN CHILDREN (DLGG)- ONE INSTITUTION EXPERIENCE.

artículo científico publicado en 2016

LG-49LOW GRADE GLIOMA (LGG) OF THE SPINAL CORD. SPECIFIC LOCATION NEEDS SPECIFIC TREATMENT.

artículo científico publicado en 2016

LG-56NON-INFILTRATING LOW GRADE GLIOMA (LGG) OF THE BRAIN STEM IN CHILDREN. ONE CENTER EXPERIENCE.

artículo científico publicado en 2016

Leigh disease due to SCO2 mutations revealed at extended autopsy.

artículo científico publicado en 2015

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

artículo científico publicado en 2017

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient

artículo científico publicado en 2011

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings

artículo científico publicado en 2014

Liver Angiomyolipomas in Tuberous Sclerosis Complex-Their Incidence and Course.

artículo científico publicado en 2017

Long-term MRI cell tracking after intraventricular delivery in a patient with global cerebral ischemia and prospects for magnetic navigation of stem cells within the CSF

artículo científico publicado en 2014

Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

artículo científico publicado en 2013

MB-02CONTRAST ENHANCEMENT PATTERN IS ASSOCIATED WITH MOLECULAR TYPE OF MEDULLOBLASTOMA TUMOURS AND PREDICTS POOR SURVIVAL FOR PATIENTS.

artículo científico publicado en 2016

MEDULLOBLASTOMA

MR imaging, apparent diffusion coefficient and histopathological features of desmoplastic infantile tumors-own experience and review of the literature.

artículo científico publicado en 2014

MR venography in children and adolescents with multiple sclerosis does not show increased prevalence of extracranial veins anomalies.

artículo científico publicado en 2013

MRCP Versus ERCP in the Evaluation of Chronic Pancreatitis in Children: Which Is the Better Choice?

artículo científico publicado en 2016

MRI findings in the young infant with brainstem disconnection and extracerebral features. Report of one case and review of the literature

artículo científico publicado en 2009

MRI in the diagnosis of congenital white matter diseases and other neurodegenerative diseases

artículo científico publicado el 1 de julio de 2001

MRI of a family with leukoencephalypathy with vanishing white matter.

artículo científico publicado en 2005

Magnetic resonance imaging in the evaluation of the fetal spinal canal contents.

artículo científico publicado en 2010

Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome

artículo científico publicado en 2004

Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature ⬇️

artículo científico publicado el 31 de mayo de 2011

Medullary cap dysplasia: MRI and diffusion tensor imaging of a hindbrain malformation

artículo científico publicado en 2015

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

artículo científico publicado en 2017

Moyamoya disease associated with stenosis of extracranial arteries: a case report and review of the literature

artículo científico publicado en 2005

Multiparametric MRI as a Non-Invasive Monitoring Tool for Children with Autoimmune Hepatitis

artículo científico publicado en 2020

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

artículo científico publicado en 2018

Naturally occurring V1-env region variants mediate simian immunodeficiency virus SIVmac escape from high-titer neutralizing antibodies induced by a protective subunit vaccine

artículo científico publicado en 2000

Neuroimaging of multiple sclerosis in children

artículo científico publicado en 2011

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

artículo científico publicado en 2017

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

artículo científico publicado en 2016

Non-neuronopathic Gaucher disease due to saposin C deficiency.

artículo científico publicado en 2007

PEDIATRICS CLINICAL RESEARCH

Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report.

artículo científico publicado en 2013

Phase II study of anti-CD4 idiotype vaccination in HIV positive volunteers.

artículo científico publicado en 1999

Phenotype expansion and development in Kosaki Overgrowth Syndrome

artículo científico publicado en 2017

Pontine tegmental cap dysplasia: a hindbrain malformation caused by defective neuronal migration.

artículo científico publicado en 2010

Proton MR Spectroscopy in Patients with Leigh Syndrome.

artículo científico publicado en 2011

RADIOLOGY

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts

artículo científico publicado en 2015

Rhombencephalosynapsis - isolated anomaly or complex malformation?

artículo científico publicado en 2012

SURF1 missense mutations promote a mild Leigh phenotype.

artículo científico publicado en 2009

Severe central and peripheral paraneoplastic demyelination associated with tumours of the ovaries

artículo científico publicado en 2015

Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients.

artículo científico publicado en 2009

Spinal cord compression in Maroteaux-Lamy syndrome: case report and review of the literature with effects of enzyme replacement therapy.

artículo científico

Spinal cord lesions in children and adolescents with multiple sclerosis - Magnetic resonance imaging.

artículo científico publicado en 2016

Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas.

artículo científico publicado en 2011

Surgical treatment of subependymal giant cell astrocytoma in tuberous sclerosis complex patients.

artículo científico publicado en 2013

Teratoma or enterogenous cyst? The histopathological and clinical dilemma in co-existing occult neural tube dysraphism

artículo científico publicado en 2006

Transalar sphenoidal encephalocele. A case report

artículo científico publicado en 2007

Trilateral retinoblastoma: an institutional experience and review of the literature

artículo científico publicado en 2009

Usefulness of magnetic resonance imaging with SWI sequence (susceptibility-weighted imaging) in diagnosing cerebral hemosiderosis - case report ⬇️

artículo científico publicado el 1 de julio de 2010

Virginal breast hypertrophy in a patient with Beckwith-Wiedemann syndrome.

artículo científico publicado en 2018

[Can proton magnetic resonance spectroscopy be of any value as a prognostic factor in medulloblastoma?]

scientific article published on 01 April 2003

[Children with neurofibroma type 1 treated in the Children's Memorial Health Institute]

artículo científico publicado en 2006

[The value of the proton magnetic resonance spectroscopy (HMRS) of white matter injury in children treated with chemo- and/or radiotherapy. Preliminary report]

scientific article published on 01 April 2003

[Treatment results of children and adolescents with brain stem tumours. Own experiences]

artículo científico publicado en 2006

Lista de obras de Elzbieta Jurkiewicz

"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.

1324 FAT DISTRIBUTION, LIPIDS AND INFLAMMATORY ACTIVITY CORRELATE WITH LIPID INFILTRATION OF THE LIVER IN OBESE/OVERWEIGHT CHILDREN

A Pharmacokinetics, Efficacy, and Safety Study of Gadoterate Meglumine in Pediatric Subjects Aged Younger Than 2 Years

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

Accuracy of intraoperative registration during electromagnetic neuronavigation in intracranial procedures performed in children.

Acute fright induces onset of symptoms in vanishing white matter disease-case report

Adenylosuccinate lyase deficiency: the first identified polish patient

Angiocentric glioma: a rare intractable epilepsy-related tumour in children.

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex.

Apparent diffusion coefficient is increased in children with tuberous sclerosis complex personal experience and review of the literature.

Arterial hypertension with brachydactyly in a 15-year-old boy.

Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.

Basal ganglia lesions in children and adults

Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease

Blood pressure rhythmicity and visceral fat in children with hypertension.

Brain MRI in fetuses with cardiac tumours

Brain Metastases from Ewing's Sarcoma. A Report of Two Cases and Review of the Literature.

CRAN-06. CHILDREN WITH PINEOBLASTOMA. A SINGLE-INSTITUTION SERIES

Cerebellar lesions in children with tuberous sclerosis complex

Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex.

Cervical spine MRI findings in patients with Mucopolysaccharidosis type II.

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.

Congenital CNS tumors diagnosed on prenatal MRI

Congenital brain tumors in a series of 56 patients.

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Congenital intramedullary spinal cord tumours: a report of two cases

Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.

Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours

Cyst-like cortical tubers in patients with tuberous sclerosis complex: MR imaging with the FLAIR sequence.

Developmental anomalies of the nervous system in ultrasonography and CT images

Direct trans-sylvian approach to the ventrolateral pons in surgical management of large cystic cavernous malformations of the brain stem in children

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

EEG abnormalities preceding the epilepsy onset in tuberous sclerosis complex patients - a prospective study of 5 patients.

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature

Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex.

Enzyme Replacement Therapy in an Attenuated Case of Mucopolysaccharidosis Type I (Scheie Syndrome): A 6.5-Year Detailed Follow-Up ⬇️

Epilepsy in newborns with tuberous sclerosis complex.

Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.

Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy

Germinoma Mimicking Brain Inflammation: A Case Report

Giant cerebellar cavernous malformation in 4-month-old boy. Case report and review of the literature.

Giant intracranial aneurysm in a 9-year-old boy with tuberous sclerosis

High Grade Gliomas and DIPG

In vitro anti-HIV-1 activity of chondroitin polysulphate

Infantile spasms and cytomegalovirus infection: antiviral and antiepileptic treatment

Infratentorial tumors in children - value of ADC in prediction of grade of neoplasms ⬇️

Intracerebroventricular Transplantation of Cord Blood-Derived Neural Progenitors in a Child With Severe Global Brain Ischemic Injury

LG-35LOW GRADE GLIOMAS (LGG) IN INFANTS - ONE INSTITUTION EXPERIENCE.

LG-45DISSEMINATED LOW GRADE GLIOMAS IN CHILDREN (DLGG)- ONE INSTITUTION EXPERIENCE.

LG-49LOW GRADE GLIOMA (LGG) OF THE SPINAL CORD. SPECIFIC LOCATION NEEDS SPECIFIC TREATMENT.

LG-56NON-INFILTRATING LOW GRADE GLIOMA (LGG) OF THE BRAIN STEM IN CHILDREN. ONE CENTER EXPERIENCE.

Leigh disease due to SCO2 mutations revealed at extended autopsy.

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings

Liver Angiomyolipomas in Tuberous Sclerosis Complex-Their Incidence and Course.

Long-term MRI cell tracking after intraventricular delivery in a patient with global cerebral ischemia and prospects for magnetic navigation of stem cells within the CSF

Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

MB-02CONTRAST ENHANCEMENT PATTERN IS ASSOCIATED WITH MOLECULAR TYPE OF MEDULLOBLASTOMA TUMOURS AND PREDICTS POOR SURVIVAL FOR PATIENTS.

MEDULLOBLASTOMA

MR imaging, apparent diffusion coefficient and histopathological features of desmoplastic infantile tumors-own experience and review of the literature.

MR venography in children and adolescents with multiple sclerosis does not show increased prevalence of extracranial veins anomalies.

MRCP Versus ERCP in the Evaluation of Chronic Pancreatitis in Children: Which Is the Better Choice?

MRI findings in the young infant with brainstem disconnection and extracerebral features. Report of one case and review of the literature

MRI in the diagnosis of congenital white matter diseases and other neurodegenerative diseases

MRI of a family with leukoencephalypathy with vanishing white matter.

Magnetic resonance imaging in the evaluation of the fetal spinal canal contents.

Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome

Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature ⬇️

Medullary cap dysplasia: MRI and diffusion tensor imaging of a hindbrain malformation

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

Moyamoya disease associated with stenosis of extracranial arteries: a case report and review of the literature

Multiparametric MRI as a Non-Invasive Monitoring Tool for Children with Autoimmune Hepatitis

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

Naturally occurring V1-env region variants mediate simian immunodeficiency virus SIVmac escape from high-titer neutralizing antibodies induced by a protective subunit vaccine

Neuroimaging of multiple sclerosis in children

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease