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Environmental Science and Pollution Research, ISSN 0944-1344, 6/2019, Volume 26, Issue 17, pp. 16998 - 17009
Journal Article
Journal of Inherited Metabolic Disease, ISSN 1573-2665, 12/2010, Volume 33, Issue S3, pp. 373 - 377
Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is associated with c.1528G>C substitution in the HADHA gene, since most patients have... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Nervous System Diseases - enzymology | Predictive Value of Tests | Residence Characteristics | Rhabdomyolysis - enzymology | Genetic Testing | Lipid Metabolism, Inborn Errors - genetics | Mitochondrial Trifunctional Protein, alpha Subunit - genetics | Prevalence | Rhabdomyolysis - epidemiology | Dried Blood Spot Testing | Humans | Mitochondrial Trifunctional Protein, alpha Subunit - deficiency | 3-Hydroxyacyl CoA Dehydrogenases - genetics | Nervous System Diseases - genetics | Cardiomyopathies - enzymology | Lipid Metabolism, Inborn Errors - enzymology | Nervous System Diseases - diagnosis | Poland - epidemiology | Mitochondrial Myopathies - epidemiology | Cardiomyopathies - genetics | Nervous System Diseases - epidemiology | Rhabdomyolysis - diagnosis | DNA Mutational Analysis | Cardiomyopathies - diagnosis | Mitochondrial Myopathies - diagnosis | Infant, Newborn | Genetic Predisposition to Disease | Gene Frequency | Lipid Metabolism, Inborn Errors - diagnosis | Neonatal Screening - methods | Cardiomyopathies - epidemiology | Mitochondrial Myopathies - genetics | Phenotype | Rhabdomyolysis - genetics | Mitochondrial Myopathies - enzymology | Lipid Metabolism, Inborn Errors - epidemiology | 3-Hydroxyacyl CoA Dehydrogenases - deficiency | Heterozygote | Mutation | Mitochondrial Trifunctional Protein - deficiency | Prevalence studies (Epidemiology)
Journal Article
Frontiers in Pediatrics, ISSN 2296-2360, 2019, Volume 7, Issue MAY, p. 203
Background: Cornelia de Lange Syndrome (CdLS) is a heterogeneous disorder. Diverse expression of clinical symptoms can be caused by a variety of pathogenic... 
Deep sequencing | Genetic mosaicism | Cornelia de Lange Syndrome | RNA analysis | CdLS | genetic mosaicism | SEQUENCE VARIANTS | PHENOTYPES | SMC1A | INDIVIDUALS | NIPBL | deep sequencing | PEDIATRICS | MUTATIONS | SPECTRUM | Genetic research | De Lange syndrome | Analysis | Complications and side effects | Mosaicism | Genetic aspects | Diagnosis | Children | Pediatric research | Diseases
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 07/2018, Volume 9, p. 255
Cornelia de Lange Syndrome (CdLS) is a well described multiple malformation syndrome caused by alterations in genes encoding subunits or regulators of the... 
Deep sequencing | Cornelia de Lange syndrome | Family case | Mosaic variant | CdLS | NIPBL gene | NIPPED-B | mosaic variant | VARIANTS | HOMOLOG | SOMATIC MOSAICISM | family case | NIPBL | deep sequencing | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | De Lange syndrome | Usage | Genetic variation | Mosaicism | Genetic aspects | Research | Nucleotide sequencing | Gene expression | DNA sequencing
Journal Article
Journal Article
Journal Article
Developmental period medicine, ISSN 1428-345X, 2019, Volume 23, Issue 1, p. 60
Fetal alcohol spectrum disorders (FASD) is a group of disorders that can occur in children whose mothers consumed alcohol in pregnancy. Diagnosis of fetal... 
Journal Article
Pediatria Polska, ISSN 0031-3939, 07/2017, Volume 92, Issue 4, pp. 373 - 377
We report clinical results of long-term enzyme replacement therapy in Polish population of patients with mucopolysaccharidosis type II (MPS II). The therapy... 
Expensive therapies | Pediatric orphan disease | Walking test | Enzyme replacement | Public health
Journal Article
Cardiology Journal, ISSN 1897-5593, 2017, Volume 24, Issue 1, pp. 101 - 104
FOLLOW-UP | DEFECTS | CARDIAC & CARDIOVASCULAR SYSTEMS | DILATED CARDIOMYOPATHY | Lipid Metabolism, Inborn Errors - mortality | Lipid Metabolism, Inborn Errors - genetics | Arrhythmias, Cardiac - mortality | Humans | Child, Preschool | Rhabdomyolysis - complications | Male | Rhabdomyolysis - mortality | Cardiomyopathy, Hypertrophic - therapy | Child | Cardiomyopathy, Dilated - mortality | Genetic Predisposition to Disease | Arrhythmias, Cardiac - therapy | Risk Factors | Nervous System Diseases - diet therapy | Nervous System Diseases - complications | Phenotype | Diet, Fat-Restricted | Adolescent | Arrhythmias, Cardiac - diagnosis | Lipid Metabolism, Inborn Errors - complications | Mutation | Cardiomyopathy, Dilated - therapy | Mitochondrial Trifunctional Protein - deficiency | Lipid Metabolism, Inborn Errors - diet therapy | Mitochondrial Trifunctional Protein, alpha Subunit - genetics | Infant | Nervous System Diseases - genetics | Cardiomyopathies - genetics | Rhabdomyolysis - diet therapy | Cardiomyopathies - mortality | Female | Mitochondrial Myopathies - mortality | Cardiomyopathy, Hypertrophic - diagnostic imaging | Cardiomyopathy, Hypertrophic - etiology | Mitochondrial Trifunctional Protein - genetics | Nervous System Diseases - mortality | Cardiomyopathies - diet therapy | Mitochondrial Myopathies - complications | Treatment Outcome | Arrhythmias, Cardiac - etiology | Mitochondrial Myopathies - diet therapy | Triglycerides - administration & dosage | Cardiomyopathy, Dilated - diagnostic imaging | Cardiomyopathy, Hypertrophic - mortality | Mitochondrial Myopathies - genetics | Cardiomyopathy, Dilated - etiology | Rhabdomyolysis - genetics | Cardiomyopathies - complications
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 8, pp. 1797 - 1807
Purpose: Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes,... 
speech delay | white matter paucity | USP7 | neurodevelopment | corpus callosum thinning | ABNORMALITIES | HAUSP | CHILDREN | P53 | CORPUS-CALLOSUM | GENETICS & HEREDITY | MUTATIONS | PRADER-WILLI-SYNDROME
Journal Article