639 results on '"Mandel, Hanna"'
Search Results
2. Acute hemodialysis therapy in neonates with inborn errors of metabolism
3. Concomitant congenital CMV infection and inherited liver diseases
4. Genetic landscape of pediatric acute liver failure of indeterminate origin
5. Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4
6. Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder
7. Genetic landscape of pediatric acute liver failure of indeterminate origin
8. Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy
9. A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
10. Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review
11. De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy
12. Hereditary orotic aciduria identified by newborn screening
13. A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm
14. Phase I/II Trial of Liver–derived Mesenchymal Stem Cells in Pediatric Liver–based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver–derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients
15. Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
16. Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism
17. Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia
18. PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
19. Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome
20. Vici syndrome in Israel: Clinical and molecular insights
21. Cardiopulmonary exercise test to quantify enzyme replacement response in pediatric Pompe disease
22. Investigating the cardiac pathology of SCO2‐mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell–derived cardiomyocytes
23. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
24. Peroxisomal Disorders
25. Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program
26. Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter
27. Phenotypic Variability (Heterogeneity) of Peroxisomal Disorders
28. Resolution of the Molecular Defect in a Patient with Peroxisomal Mosaicism in the Liver
29. Peroxisome Mosaics
30. Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation)
31. TBCK-related intellectual disability syndrome: Case study of two patients
32. Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism.
33. Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia.
34. TMEM70 deficiency: long-term outcome of 48 patients
35. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5
36. OP004: Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter
37. Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants
38. Effect of Allopurinol on the Xanthinuria in a Patient with Molybdenum Cofactor Deficiency
39. Clinical presentation and outcome in a series of 88 patients with the cblC defect
40. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
41. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
42. Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease
43. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy
44. Determination of Fructose Metabolic Pathways in Normal and Fructose- Intolerant Children: A 13 C NMR Study Using [U- 13 C]Fructose
45. From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
46. Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects
47. Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes
48. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex
49. Acute infantile liver failure due to mutations in the TRMU gene
50. A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.