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Primary hyperammonemias detected by newborn screening in Poland.
- Published in:
- Folia Neuropathologica, 2022, v. 60, n. 3, p. 371
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- Publication type:
- Article
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
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- Cellular & Molecular Life Sciences, 2022, v. 79, n. 6, p. 1, doi. 10.1007/s00018-022-04343-w
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- Publication type:
- Article
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme.
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- Genes, 2022, v. 13, n. 5, p. 802, doi. 10.3390/genes13050802
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- Publication type:
- Article
Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.
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- Journal of Multidisciplinary Healthcare, 2022, v. 15, p. 553, doi. 10.2147/JMDH.S251863
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- Publication type:
- Article
COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers.
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- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4862, doi. 10.3390/jcm10214862
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- Publication type:
- Article
The genetic basis of classical galactosaemia in Polish patients.
- Published in:
- 2021
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- Publication type:
- Letter
The genetic basis of classical galactosaemia in Polish patients.
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- 2021
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- Publication type:
- letter
Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report.
- Published in:
- 2021
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- Publication type:
- journal article
Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 821, doi. 10.3390/diagnostics10100821
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- Publication type:
- Article
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1121, doi. 10.1002/jimd.12247
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- Publication type:
- Article
FROM THE EDITOR-IN-CHIEF.
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- Journal of Mother & Child, 2020, v. 24, n. 1, p. 1, doi. 10.34763/jmotherandchild.2020241.1915.000005
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- Publication type:
- Article
Treatment of classic phenylketonuria in Poland in the years 2009-2015 based on the database of the Polish National Health Fund.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2020, v. 26, n. 3, p. 118, doi. 10.5114/pedm.2020.97464
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- Publication type:
- Article
Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review.
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- Acta Biochimica Polonica, 2020, v. 67, n. 2, p. 263, doi. 10.18388/abp.2020_5355
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- Publication type:
- Article
Enzyme replacement therapy in Fabry disease in Poland: a position statement.
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- Polish Archives of Internal Medicine, 2020, v. 130, n. 1, p. 91, doi. 10.20452/pamw.15117
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- Publication type:
- Article
Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 553, doi. 10.1002/jimd.12055
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- Publication type:
- Article
From the editor.
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- Developmental Period Medicine, 2018, v. 22, n. 3, p. 223
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- Publication type:
- Article
DIFFICULTIES IN THE DIETARY MANAGEMENT OF A GIRL WITH TWO DISEASES REQUIRING A SPECIAL DIET.
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- Developmental Period Medicine, 2018, v. 22, n. 3, p. 225
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- Publication type:
- Article
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 741, doi. 10.1007/s10545-017-0116-5
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- Publication type:
- Article
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 743, doi. 10.1007/s10545-017-0117-4
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- Publication type:
- Article
Clinical course and cardiovascular outcomes in patients with the long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
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- Cardiology Journal, 2017, v. 24, n. 1, p. 101, doi. 10.5603/CJ.2017.0009
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- Publication type:
- Article
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 661, doi. 10.1007/s10545-016-9938-9
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- Publication type:
- Article
Impact of age at onset and newborn screening on outcome in organic acidurias.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 341, doi. 10.1007/s10545-015-9907-8
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- Publication type:
- Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1041, doi. 10.1007/s10545-015-9839-3
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- Publication type:
- Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1059, doi. 10.1007/s10545-015-9840-x
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- Publication type:
- Article
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
- Published in:
- 2015
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- Publication type:
- Erratum
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
- Published in:
- 2015
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- Publication type:
- Erratum
GENETIC ANALYSIS IN INHERITED METABOLIC DISORDERS - FROM DIAGNOSIS TO TREATMENT. OWN EXPERIENCE, CURRENT STATE OF KNOWLEDGE AND PERSPECTIVES.
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- Developmental Period Medicine, 2015, v. 19, n. 4, p. 413
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- Publication type:
- Article
ADVANCES IN TREATMENT OF RETT SYNDROME.
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- Developmental Period Medicine, 2015, v. 19, n. 4, p. 482
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- Publication type:
- Article
ALKAPTONURIA - FIRST INBORN ERROR OF METABOLISM KNOWN FOR A CENTURY AND NEW TREATMENT OPTION - PRELIMINARY REPORT.
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- Developmental Period Medicine, 2015, v. 19, n. 4, p. 508
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- Publication type:
- Article
Congenital hyperinsulinism in Polish patients -- how can we optimize clinical management?
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- Polish Journal of Endocrinology / Endokrynologia Polska, 2015, v. 66, n. 4, p. 322, doi. 10.5603/EP.2015.0041
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- Publication type:
- Article
Zaburzenia ze spektrum autyzmu - epidemiologia, objawy, współzachorowalność i rozpoznawanie.
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- Psychiatria Polska, 2014, v. 48, n. 4, p. 653
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- Publication type:
- Article
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 929, doi. 10.1007/s10545-013-9584-4
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- Publication type:
- Article
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
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- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4151, doi. 10.1093/hmg/dds123
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- Publication type:
- Article
Behavioral and intellectual functioning in patients with tyrosinemia type I.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2012, v. 18, n. 3, p. 96
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- Publication type:
- Article
An Investigation of the Neurological and Neuropsychiatric Disturbances in Adults with Undiagnosed and/or Untreated Phenylketonuria in Poland.
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- Journal of Applied Research in Intellectual Disabilities, 2011, v. 24, n. 5, p. 482, doi. 10.1111/j.1468-3148.2011.00628.x
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- Publication type:
- Article
CHOROBA SPICHRZANIA ESTRÓW CHOLESTEROLU - NIEDOCENIANA PRZYCZYNA HIPERCHOLESTEROLEMII U DZIECI.
- Published in:
- Przeglad Pediatryczny, 2011, v. 41, n. 3, p. 117
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- Publication type:
- Article
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 923, doi. 10.1007/s10545-011-9325-5
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- Publication type:
- Article
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 185, doi. 10.1007/s10545-010-9244-x
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- Publication type:
- Article
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in Poland.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 373, doi. 10.1007/s10545-010-9190-7
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- Publication type:
- Article
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
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- Brain: A Journal of Neurology, 2010, v. 133, n. 11, p. 3210, doi. 10.1093/brain/awq261
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- Publication type:
- Article
Evaluation of Somatic Development in Adult Patients with Previously Undiagnosed and/or Untreated Phenylketonuria.
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- Medical Principles & Practice, 2009, v. 19, n. 1, p. 46, doi. 10.1159/000252834
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- Publication type:
- Article
DEFICYT FOSFORYBOZYLOTRANSFERAZY HIPOKSANTYNOGUANINOWEJ - KLINICZNA, BIOCHEMICZNA ORAZ MOLEKULARNA CHARAKTERYSTYKA PACJENTÓW.
- Published in:
- Przeglad Pediatryczny, 2008, v. 38, n. 3, p. 227
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- Publication type:
- Article
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 900, doi. 10.1038/sj.ejhg.5200554
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- Publication type:
- Article