Zobrazeno 1 - 8
of 8
pro vyhledávání: '"S. L. Rutledge"'
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
Publikováno v:
Neurology. 51:1081-1086
Objective: To screen for the SCA-7 mutation in autosomal dominant cerebellar ataxia (ADCA) families and study genotype/phenotype correlations.Background: The association of cerebellar ataxia and progressive pigmentary macular dystrophy clinically def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::526cbb4fc33fb374ea85ca58ecfdf15f
https://doi.org/10.1212/wnl.51.4.1081
https://doi.org/10.1212/wnl.51.4.1081
Publikováno v:
Journal of Inherited Metabolic Disease. 18:299-305
Genetic deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC) is a rare inborn error of leucine metabolism producing an organic acidaemia. With accumulation of 3-methylcrotonyl-CoA, there is increased production of 3-hydroxyisovaleric acid, the glyc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::973803634c12b8f5acb24fa793194fd9
https://doi.org/10.1007/bf00710419
https://doi.org/10.1007/bf00710419
Autor:
Daniel E. Hale, Daniel P. Kelly, Alison J. Whelan, Zhifang Zhang, Arnold W. Strauss, S. L. Rutledge, Moira L. Ogden
Publikováno v:
Journal of Inherited Metabolic Disease. 15:171-180
Deficiency of medium-chain acyl-CoA dehydrogenase (MCAD) is an important cause of sudden death in children. The majority of surviving individuals with MCAD deficiency studied to date are homozygous for a single point mutation at bp 985 of the MCAD mR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0bb823d48dd8f353de3a4292407ad5e
https://doi.org/10.1007/bf01799626
https://doi.org/10.1007/bf01799626
Autor:
Stephen G. Kahler, Cindy R. Miller, Jacques Jaeken, Priya S. Kishnani, J. L. K. Van Hove, Philippe Demaerel, S. L. Rutledge
Publikováno v:
Neurology. 54(3)
We present four patients with typical neonatal onset non-ketotic hyperglycinemia (NKH) who developed hydrocephalus requiring shunting in early infancy. Brain imaging revealed acute hydrocephalus, a megacisterna magna or posterior fossa cyst, pronounc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8402eaaebc367245d398ef3df1a064af
https://pubmed.ncbi.nlm.nih.gov/10680820
https://pubmed.ncbi.nlm.nih.gov/10680820
Publikováno v:
Journal of inherited metabolic disease. 18(5)
A new acylcarnitine was observed in the plasma and urine of a patient with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Analysis by tandem mass spectrometry of the methyl ester and butyl ester and their fragment ion spectra identified it as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dd9a2910905cb256d76140be52a24c0
https://pubmed.ncbi.nlm.nih.gov/8598640
https://pubmed.ncbi.nlm.nih.gov/8598640
Publikováno v:
Pediatric nephrology (Berlin, Germany). 7(1)
We report two patients with methylmalonic acidemia (MMA) in whom renal biopsy demonstrated interstitial nephritis, bringing the total of such reported cases to four. In addition, hypertension, observed in one of our patients, has not been previously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4489e431e4841076728ef24b3057f0eb
https://pubmed.ncbi.nlm.nih.gov/8439488
https://pubmed.ncbi.nlm.nih.gov/8439488
Publikováno v:
Progress in clinical and biological research. 375
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8d163452b37aca6e62407275e700a223
https://pubmed.ncbi.nlm.nih.gov/1438388
https://pubmed.ncbi.nlm.nih.gov/1438388
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 86(20)
We determined the nucleotide sequences of junctional regions associated with large deletions of mitochondrial DNA found in four unrelated individuals with a phenotype of chronic progressive external ophthalmoplegia. In each patient, the deletion brea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bcd3986aea1cd5cb994ec8bd487e449
https://pubmed.ncbi.nlm.nih.gov/2813377
https://pubmed.ncbi.nlm.nih.gov/2813377