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Serum amino acid profile in patients with Parkinson's disease

PloS one, 2018-01, Vol.13 (1), p.e0191670-e0191670

2018

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Simone Weil i Kaija Saariaho. Paradoksy literacko-muzyczne

Czytanie literatury : czasopismo Instytutu Filologii Polskiej Uniwersytetu Łódzkiego, 2021-12 (10), p.67-97

Kucia-Kuśmierska, Katarzyna

2021

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Clinico-pathological correlation in case of BRAT1 mutation

Folia neuropathologica, 2018-01, Vol.56 (4), p.362-371

2018

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Poezja na głos z towarzyszeniem muzyki jazzowej: Wisława Szymborska – Tomasz Stańko i Ewa Lipska – Leszek „HeFi” Wiśniowski

Ruch literacki, 2024-08, p.873-890

Kucia-Kuśmierska, Katarzyna

2024

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Dietary Intake and Circulating Amino Acid Concentrations in Relation with Bone Metabolism Markers in Children Following Vegetarian and Omnivorous Diets

Nutrients, 2023-03, Vol.15 (6), p.1376

2023

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Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines

Respiratory physiology & neurobiology, 2015-04, Vol.209, p.124-132

2015

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Association of single nucleotide polymorphism rs7579169 with hypertension disorders during pregnancy and perinatal outcome

Neuro-endocrinology letters, 2015, Vol.36 (3), p.282-287

2015

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Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach

Advances in experimental medicine and biology, 2015, Vol.837, p.1

2015

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The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

BioMed research international, 2014-01, Vol.2014 (2014), p.1-8

2014

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Basic knowledge about the most common cancers

European journal of obstetrics & gynecology and reproductive biology, 2024-02, Vol.293, p.57

Kuśmierska-Urban, Katarzyna

2024

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Simone Weil i Kaija Saariaho. Paradoksy literacko-muzyczne

Czytanie literatury : czasopismo Instytutu Filologii Polskiej Uniwersytetu Łódzkiego, 2021 (10), p.67-97

Kucia-Kuśmierska, Katarzyna

2021

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Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2012-03, Vol.159B (2), p.236-242

2012

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Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.185-195

2011

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Adenylosuccinate lyase deficiency: The first identified polish patient

Brain & development (Tokyo. 1979), 2007-10, Vol.29 (9), p.600-602

2007

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Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children

Advances in Clinical Science, 2016, Vol.878, p.73-82

2016

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Leptin and interferon-gamma as possible predictors of cesarean section among women with hypertensive disorders of pregnancy

Medical science monitor, 2012-08, Vol.18 (8), p.CR506-CR511

2012

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Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene

Diagnostics (Basel), 2020-10, Vol.10 (10), p.821

2020

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Factors associated with caesarean section in women referred for preinduction - a nested case-control study in dinoprostone and misoprostol groups

Ginekologia polska, 2021-01, Vol.92 (12), p.892-901

2021

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Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme

Genes, 2022-04, Vol.13 (5), p.802

2022

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Selected polymorphisms of Renin-Angiotensin System in the pathology of hypertensive disorders of pregnancy

Ginekologia polska, 2013-03, Vol.84 (3), p.214

2013

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The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

Cellular and molecular life sciences : CMLS, 2022-06, Vol.79 (6), p.305-305, Article 305

2022

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

Folia neuropathologica, 2009, Vol.47 (4), p.314

2009

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Feto-placental blood flow--practical remarks

Przeglad lekarski, 2009, Vol.66 (7), p.394

2009

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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Molecular genetics and metabolism, 2023-07, Vol.139 (3), p.107624-107624, Article 107624

2023

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Serum amino acid profile in patients with Parkinson's disease

Simone Weil i Kaija Saariaho. Paradoksy literacko-muzyczne

Clinico-pathological correlation in case of BRAT1 mutation

Poezja na głos z towarzyszeniem muzyki jazzowej: Wisława Szymborska – Tomasz Stańko i Ewa Lipska – Leszek „HeFi” Wiśniowski

Dietary Intake and Circulating Amino Acid Concentrations in Relation with Bone Metabolism Markers in Children Following Vegetarian and Omnivorous Diets

Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines

Association of single nucleotide polymorphism rs7579169 with hypertension disorders during pregnancy and perinatal outcome

Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach

The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

Basic knowledge about the most common cancers

Simone Weil i Kaija Saariaho. Paradoksy literacko-muzyczne

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Adenylosuccinate lyase deficiency: The first identified polish patient

Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

Leptin and interferon-gamma as possible predictors of cesarean section among women with hypertensive disorders of pregnancy

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene

Factors associated with caesarean section in women referred for preinduction - a nested case-control study in dinoprostone and misoprostol groups

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme

Selected polymorphisms of Renin-Angiotensin System in the pathology of hypertensive disorders of pregnancy

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

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

Feto-placental blood flow--practical remarks

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

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