about
Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh diseaseThe role of genetic factors and pre- and perinatal influences in the etiology of autism spectrum disorders - indications for genetic referralMultiple phenotypes in phosphoglucomutase 1 deficiency.Biochemical and clinical characteristics of creatine deficiency syndromes.Clinical Features of Lysosomal Acid Lipase Deficiency.Patient's weight can decide about spending millions on enzyme replacement therapy in MPS IILeft ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria.SURF1 missense mutations promote a mild Leigh phenotype.Seventeen novel mutations that cause profound biotinidase deficiency.Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.Oral D-galactose supplementation in PGM1-CDG.X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation.Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.Proton MR Spectroscopy in Patients with Leigh Syndrome.Impact of age at onset and newborn screening on outcome in organic acidurias.[Autism spectrum disorders - epidemiology, symptoms, comorbidity and diagnosis].Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.Behavioral and intellectual functioning in patients with tyrosinemia type I.Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationErratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotypeElevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and GalactosemiaUrgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screeningInternational clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upIntact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiencyG8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child[Compliance of the diet restricted with leucine, isoleucine and valine in maple syrup urine disease (MSUD) children][Maple Syrup Urine Disease in a newborn infant]A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiencyMeasurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria
P50
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P50
description
researcher
@en
wetenschapper
@nl
name
J Sykut-Cegielska
@en
J Sykut-Cegielska
@nl
type
label
J Sykut-Cegielska
@en
J Sykut-Cegielska
@nl
prefLabel
J Sykut-Cegielska
@en
J Sykut-Cegielska
@nl
P106
P31
P496
0000-0003-0762-3721