312 results on '"Pronicka, Ewa"'
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2. Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children
3. Hypocapnic hypothesis of Leigh disease
4. Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations
5. Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
6. Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases
7. A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
8. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
9. Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leberʼs hereditary optic neuropathy
10. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
11. Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease
12. PIGN encephalopathy: Characterizing the epileptology
13. Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome
14. No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction
15. Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children
16. Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome
17. Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes
18. Orphanet Polska – w europejskiej sieci jako szansa oceny sytuacji chorób rzadkich na przykładzie wrodzonych wad metabolizmu u dzieci
19. Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening
20. Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure
21. Wiotkość mięśniowa u niemowląt – wyzwanie diagnostyczne dla pediatry
22. A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland
23. Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation
24. Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in theLDLR gene
25. Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients
26. Deficyt liazy adenylobursztynianowej – diagnostyka i charakterystyka kliniczna 7 polskich pacjentów
27. MRI of a family with leukoencephalypathy with vanishing white matter
28. Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance
29. Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations
30. Dominantly inherited isolated hyperparathyroidism: a syndromic association?
31. Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations
32. Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
33. Persistent hypercalciuria and elevated 25-hydroxyvitamin D3 in children with infantile hypercalcaemia
34. Diversity of Cystathionine b-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T > C: A Possible Role for Gene Conversion
35. Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.
36. Clinical, biochemical, and genetic features associated with VARS2 -related mitochondrial disease
37. The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort
38. Leigh syndrome caused by mutations inMTFMTis associated with a better prognosis
39. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
40. Pancreatic glucagon levels in infants and children with hyperinsulinemia
41. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
42. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?
43. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency:is riboflavin supplementation effective?
44. Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease
45. 13C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria
46. Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype
47. NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy
48. Clinical, biochemical, and genetic features associated with VARS2 -related mitochondrial disease
49. Progressive deafness-dystonia due to SERAC1 mutations : A study of 67 cases
50. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
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