Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Kim K, Nickander"'
Autor:
Joanne Kurtzberg, Vinod K. Prasad, Adam J. Guenzel, Coleman T. Turgeon, Joan E. Pellegrino, Gisele Pino, Kimiyo Raymond, Amy L. White, Maria L. Escolar, Rachel Hickey, Devin Oglesbee, Dawn Peck, Piero Rinaldo, Ai Sakonju, Margie A. Ream, Silvia Tortorelli, Joseph J. Orsini, Natalie M. Shallow, April Studinski, Michael H. Gelb, Dimitar Gavrilov, Kim K. Nickander, Maria Laura Duque Lasio, Dietrich Matern
Publikováno v:
Genetics in Medicine. 22:1108-1118
Newborn screening (NBS) for Krabbe disease (KD) is performed by measurement of galactocerebrosidase (GALC) activity as the primary test. This revealed that GALC activity has poor specificity for KD. Psychosine (PSY) was proposed as a disease marker u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a47210c51ffe5b05fc9c0888ea3c4791
https://doi.org/10.1038/s41436-020-0764-y
https://doi.org/10.1038/s41436-020-0764-y
Autor:
Dietrich Matern, Kimiyo Raymond, Kim K. Nickander, Devin Oglesbee, Piero Rinaldo, Jean M. Lacey, April Studinski, Silvia Tortorelli, Amy M White, Maira Burin, Gisele Pino, Erin Conboy, Sara Minnich, Roberto Giugliani, Dimitar Gavrilov, Dawn Peck
Publikováno v:
Molecular Genetics and Metabolism. 129:106-110
Purpose To describe an efficient and effective multiplex screening strategy for sulfatide degradation disorders and mucolipidosis type II/III (MLII/III) using 3 mL of urine. Methods Glycosaminoglycans were analyzed by liquid chromatography-tandem mas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650af8ffc8e2fde22df2495f60bf668e
https://doi.org/10.1016/j.ymgme.2019.10.009
https://doi.org/10.1016/j.ymgme.2019.10.009
Autor:
Shino, Shimada, Bobby G, Ng, Amy L, White, Kim K, Nickander, Coleman, Turgeon, Kristen L, Liedtke, Christina T, Lam, Esperanza, Font-Montgomery, Charles M, Lourenco, Miao, He, Dawn S, Peck, Luis A, Umana, Crescenda L, Uhles, Devon, Haynes, Patricia G, Wheeler, Michael J, Bamshad, Deborah A, Nickerson, Tom, Cushing, Ryan, Gates, Natalia, Gomez-Ospina, Heather M, Byers, Fernanda B, Scalco, Noelia N, Martinez, Rani, Sachdev, Lacey, Smith, Annapurna, Poduri, Stephen, Malone, Rebekah V, Harris, Ingrid E, Scheffer, Sergio D, Rosenzweig, David R, Adams, William A, Gahl, May Christine V, Malicdan, Kimiyo M, Raymond, Hudson H, Freeze, Xiaohong, Zhang
Publikováno v:
Journal of medical genetics.
PurposeTo summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67d43987ae7f70e65c7c9e2d98568529
https://pubmed.ncbi.nlm.nih.gov/35790351
https://pubmed.ncbi.nlm.nih.gov/35790351
Autor:
Patricia L. Hall, Kimiyo Raymond, William A. Gahl, Carlos Ferreira, Lynne A. Wolfe, Hudson H. Freeze, Christina Lam, Gerard T. Berry, Kim K. Nickander, John J. Alexander, Caroline M. Watson, Jon D. Sharer, Ghazia Asif
Publikováno v:
Molecular Genetics and Metabolism. 124:82-86
N-glycanase deficiency (NGLY1 deficiency, NGLY1-CDDG), the first autosomal recessive congenital disorder of N-linked deglycosylation (CDDG), is caused by pathogenic variants in NGLY1. The majority of affected individuals have been identified using ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e029f542c0bd6903e4a326fa9abd7863
https://doi.org/10.1016/j.ymgme.2018.03.002
https://doi.org/10.1016/j.ymgme.2018.03.002
Autor:
Piero Rinaldo, Silvia Tortorelli, Kim K. Nickander, Devin Oglesbee, Kimiyo Raymond, Dimitar Gavrilov, Dietrich Matern, Jean M. Lacey
Publikováno v:
Molecular Genetics and Metabolism. 126:S108
Fabry disease, metachromatic leukodystrophy (MLD), multiple sulfatase deficiency (MSD), saposin B deficiency (SAPB) and mucolipidosis II (MLII) are disorders caused by enzyme deficiencies leading to accumulation of ceramide trihexosides and/or sulfat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::faaf9fb10d76ff2883e697a16b72b3ad
https://doi.org/10.1016/j.ymgme.2018.12.273
https://doi.org/10.1016/j.ymgme.2018.12.273
Publikováno v:
Autonomic Neuroscience. 120:97-103
Objective To screen candidate genes, encoding β 2 -adrenergic receptor (β 2 AR), α 2C -adrenergic receptor (α 2C AR), norepinephrine transporter (NET), and mitochondrial complex I (COI), for common single nucleotide polymorphisms (SNPs) in patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dd14cd409c88b8deb0f90bf33794dc9
https://doi.org/10.1016/j.autneu.2005.05.001
https://doi.org/10.1016/j.autneu.2005.05.001
Autor:
Devin Oglesbee, Kim K. Nickander, Piero Rinaldo, Kimiyo Raymond, Silvia Tortorelli, Dimitar Gavrilov, Dietrich Matern
Publikováno v:
Molecular Genetics and Metabolism. 120:S102-S103
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08d27f59d52eacd0fa26d288aa599f9d
https://doi.org/10.1016/j.ymgme.2016.11.258
https://doi.org/10.1016/j.ymgme.2016.11.258
Publikováno v:
Journal of the Peripheral Nervous System. 7:96-103
The identification of several mitochondrial DNA (mtDNA) deletions and the accumulation of the "common" 4.8-kb mitochondrial DNA deletion (mtDNA(4834)) with aging and experimental streptozotocin-induced diabetes (STZ) were studied in the rat dorsal ro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fce3e19c8aa5521640e2968a0635677d
https://doi.org/10.1046/j.1529-8027.2002.02012.x
https://doi.org/10.1046/j.1529-8027.2002.02012.x
Autor:
Kim K. Nickander, Jeffrey K. Yao, Phillip A. Low, James D. Schmelzer, H. J. Tritschler, Paula J. Zollman, Yutaka Kishi
Publikováno v:
Diabetes. 48:2045-2051
The peripheral nerve of experimental diabetic neuropathy (EDN) is reported to be ischemic and hypoxic, with an increased dependence on anaerobic metabolism, requiring increased energy substrate stores. When glucose stores become reduced, fiber degene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95356894d91c9f7b53608c1cb16de02b
https://doi.org/10.2337/diabetes.48.10.2045
https://doi.org/10.2337/diabetes.48.10.2045
Publikováno v:
American Journal of Kidney Diseases. 31:687-693
A gender-associated dimorphism, with males being more severely affected than females, has been observed in autosomal dominant polycystic kidney disease, acquired renal cystic disease, and the renal cystic disease of the Han:SPRD rat. A recent study h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceefb54fe4ad5175c1bdab6548c546a0
https://doi.org/10.1053/ajkd.1998.v31.pm9531187
https://doi.org/10.1053/ajkd.1998.v31.pm9531187