153 results on '"Natowicz M"'
Search Results
2. Late-onset Tay–Sachs disease presenting as a childhood stutter
3. Double outlet right ventricle: aetiologies and associations
4. Case of the month A 3.5-year-old female with developmental delays, hepatomegaly, and coarse facies
5. ADULT-ONSET LEUKOENCEPHALOPATHY IN TWO SIBLINGS: NEUROPATHOLOGIC AND METABOLIC STUDIES
6. Unusual biochemical presentation of GM1 gangliosidosis: markedly elevated levels of multiple plasma lysosomal enzyme activities
7. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
8. Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease
9. New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN
10. Late-onset Tay-Sachs disease presenting as a childhood stutter
11. Genetic discrimination and the Americans with Disabilities Act
12. Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease
13. P101 PLASMA CITRULLINE IS A MARKER OF HOME PARENTERAL NUTRITION DEPENDENCE IN PATIENTS WITH SHORT BOWEL SYNDROME
14. Genetic discrimination and the law
15. Discrimination as a consequence of genetic testing
16. Late-onset Tay-Sachs disease: Adverse effects of medications and implications for treatment
17. Adult-onset MLD: A gene mutation with isolated polyneuropathy
18. A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease?
19. Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States.
20. Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.
21. Urine sulfatides and the diagnosis of metachromatic leukodystrophy
22. Genetic testing and insurance.
23. Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease
24. A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation
25. The allure of genetic explanations.
26. Diagnosis of α-Mannosidosis by Measuring α-Mannosidase in Plasma
27. A mutation common in non-jewish Tay-Sachs disease: Frequency and RNA studies
28. Newborn screening -- setting evidence-based policy for protection.
29. Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
30. Structural studies of the endoglycosidase H-resistant oligosaccharides present on human beta-glucuronidase.
31. Enzymatic identification of mannose 6-phosphate on the recognition marker for receptor-mediated pinocytosis of beta-glucuronidase by human fibroblasts.
32. Metabolic labeling of lutropin with [35S]sulfate.
33. Structural studies of the phosphorylated high mannose-type oligosaccharides on human beta-glucuronidase.
34. Glucuronic acid-conjugated dihydroxy fatty acids in the urine of patients with generalized peroxisomal disorders.
35. Fibroblast receptor for lysosomal enzymes mediates pinocytosis of multivalent phosphomannan fragment
36. Recognition and receptor-mediated uptake of phosphorylated high mannose-type oligosaccharides by cultured human fibroblasts.
37. Human serum hyaluronidase: Characterization of a clinical assay
38. Pharmacokinetic analysis of a case of isopropanol intoxication.
39. Screening techniques for the detection of inborn errors of bile acidmetabolism by direct injection and g high performance liquid chromatography---continuous flow fast atom bombardment mass spectrometry
40. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
41. Reanalysis of Clinical Exome Sequencing Data.
42. LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.
43. Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care.
44. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
45. Disclosure of personal medical information: differences among parents and affected adults for genetic and nongenetic conditions.
46. Biopsy-proven alpha-glucosidase deficiency with normal lymphocyte enzyme activity.
47. Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
48. Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
49. A seat at the table: membership in federal advisory committees evaluating public policy in genetics.
50. Analysis of sulfatide and enzymes of sulfatide metabolism.
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