242 results on '"Gahl, A."'
Search Results
2. Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study
3. Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program
4. Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis
5. Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis
6. PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation
7. Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome
8. Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis
9. Aortic distensibility in alkaptonuria
10. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency
11. The Undiagnosed Diseases Network International: Five years and more!
12. Investigating the role of in myelination and neurodegeneration in a murine model of free sialic acid storage disorder
13. Collaborative research efforts drive therapeutic advancements for free sialic acid storage disorder (FSASD)
14. Cell-based functional assays for free sialic acid storage disorder
15. Advancing free sialic acid storage (FSASD) disorder disease modeling: Insights from iPSC-derived neural cell types
16. MGM and Undiagnosed Diseases.
17. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors
18. Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation
19. Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients
20. Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center
21. Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis
22. Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability
23. Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency
24. Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy
25. Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients
26. Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS
27. Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B
28. Investigating the role of SLC17A5 in myelination and neurodegeneration in a murine model of free sialic acid storage disorder
29. Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism
30. ACCELERATION OF ALKAPTONURIC SPONDYLOARTHROPATHY IN A PATIENT WITH CHRONIC KIDNEY DISEASE
31. A concerted action to explore therapies for free sialic acid storage disease
32. York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
33. In vitro functional correction of Hermansky–Pudlak Syndrome type-1 by lentiviral-mediated gene transfer
34. PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation
35. Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
36. In memoriam: Jerry Allan Schneider, 1937–2021
37. Chronic myopathy due to immunoglobulin light chain amyloidosis
38. An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays
39. Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy
40. Neurotransmitter abnormalities and response to supplementation in SPG11
41. In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
42. Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function
43. Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering
44. Aortic stenosis and vascular calcifications in alkaptonuria
45. GENE VARIANTS ASSOCIATED WITH THROMBOCYTOPENIA WITH OR WITHOUT GNE MYOPATHY
46. Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome
47. Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis
48. Aortic distensibility in alkaptonuria
49. ACCELERATION OF ALKAPTONURIC SPONDYLOARTHROPATHY IN A PATIENT WITH CHRONIC KIDNEY DISEASE
50. A concerted action to explore therapies for free sialic acid storage disease
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