Výsledky vyhledávání

Vascular endothelial function in cyclosporine and tacrolimus treated renal transplant recipients

Autor: C A, Ovuworie, E R, Fox, C M, Chow, M, Pascual, V E, Shih, M H, Picard, N E, Tolkoff-Rubin

Publikováno v: Transplantation. 72(8)

Endothelial dysfunction is an early key event in the development of arteriosclerotic cardiovascular disease (ASCVD), thus an early marker of subclinical ASCVD. Endothelial function is impaired in renal transplant recipients (RTR) treated with cyclosp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f57f80480f4a3b81929fe7c994d819af
https://pubmed.ncbi.nlm.nih.gov/11685108

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Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program

Autor: T H, Zytkovicz, E F, Fitzgerald, D, Marsden, C A, Larson, V E, Shih, D M, Johnson, A W, Strauss, A M, Comeau, R B, Eaton, G F, Grady

Publikováno v: Clinical chemistry. 47(11)

Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs to screen dried blood spots for20 markers of disease in a single assay. Limited information is available for setting the marker cutoffs and for the resulting posi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::019f24df120102dae537ab94e4ec672f
https://pubmed.ncbi.nlm.nih.gov/11673359

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Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome

Autor: E, Zammarchi, F, Ciani, E, Pasquini, G, Buonocore, V E, Shih, M A, Donati, G, Bonocore

We report on a neonate with hyperammonemic coma in whom hyperormthinemia-hyperammonemia-homocitrullinuria syndrome was diagnosed. Appropriate treatment led to rapid clinical and metabolic improvement. The incorporation of 14 C-ornithine on cultured f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c07f6f10ba8e427227ce7ad2418d0193
http://hdl.handle.net/11365/30268

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Ornithine

Autor: V. E. Shih

Publikováno v: Inborn Metabolic Diseases ISBN: 9783662031490

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ee28f2673bc107b9d0452e9a27033892
https://doi.org/10.1007/978-3-662-03147-6_16

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Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase

Autor: M, Wajner, M T, Sanseverino, R, Giugliani, L, Sweetman, S, Yamaguchi, T, Fukao, V E, Shih

Publikováno v: Clinical genetics. 41(4)

A case report of 3-ketothiolase deficiency due to a defect of mitochondrial acetoacetyl-CoA thiolase protein in a Brazilian boy and its biochemical investigation is presented. The child had moderate generalized hypotonia, EEG alterations and crises o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d80364cbb6b3f5ffe5e36442c176d0fd
https://pubmed.ncbi.nlm.nih.gov/1349518

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Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency

Autor: V, Ramesh, J F, Gusella, V E, Shih

Publikováno v: Molecular biologymedicine. 8(1)

Gyrate atrophy (GA) is an autosomal recessive eye disease characterized by progressive loss of vision due to chorioretinal degeneration. It is associated with a deficiency of the mitochondrial enzyme ornithine aminotransferase (OATase) with consequen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a24ad33ec7ee0063fb512902efa61b01
https://pubmed.ncbi.nlm.nih.gov/1682785

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Aminoaciduria due to vinyl-GABA administration

Autor: V E, Shih, A, Tenanbaum

Publikováno v: The New England journal of medicine. 323(19)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2f2742d482f0b5edcdd7e4b4905b1e30
https://pubmed.ncbi.nlm.nih.gov/2215628

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Regulation of breathing, glycine, and other neurotransmitter amino acids in brain and cerebrospinal fluid during respiratory acidosis and ammonia infusion*

Autor: P. M. Stein, R. E. Dutton, V. E. Shih, G. D. Renzi, P. J. Feustel, H. Kazemi, P. M. Renzi

Publikováno v: Amino Acids ISBN: 9789072199041

The ventilatory response and amino acid levels in dog brain and cerebrospinal fluid (CSF) were determined after one hour of respiratory acidosis at a narcotic level of 25–35% CO2, balance O2, that raised PaCO2 greater than 24 kPa, lowered pH of art

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5a84778ebf3d17de6d7d08393601ffb0
https://doi.org/10.1007/978-94-011-2262-7_52

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Hyperornithinemias

Autor: V. E. Shih

Publikováno v: Inborn Metabolic Diseases ISBN: 9783662026151

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c41bb227e1567281dc0bd9418b776163
https://doi.org/10.1007/978-3-662-02613-7_18

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EPITHELIAL HEPATOBLASTOMA ASSOCIATED WITH CONGENITAL HEMIHYPERTROPHY AND CYSTATHIONINURIA: PRESENTATION OF A CASE

Autor: C. F. Geiser, A. Baez, A. M. Schindler, V. E. Shih

Publikováno v: Pediatrics. 46:66-73

A 13-month-old boy with hepatoblastoma and hemihypertrophy is presented; this is the fifth known case with this association. Histological study showed that hemihypertrophy was related to cellular hyperplasia but not to hypertrophy of individual cells

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0913a5cc8b2c195868c546e024de78ca
https://doi.org/10.1542/peds.46.1.66

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