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Page 1
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Stockler S, Schutz PW, Salomons GS. Stockler S, et al. Subcell Biochem. 2007;46:149-66. doi: 10.1007/978-1-4020-6486-9_8. Subcell Biochem. 2007. PMID: 18652076 Review.
The biochemical hallmarks of these disorders include cerebral creatine deficiency as detected in vivo by 1H magnetic resonance spectroscopy (MRS) of the brain, and specific disturbances in metabolites of creatine metabolism in body fluids. In urine and plasma, ab …
The biochemical hallmarks of these disorders include cerebral creatine deficiency as detected in vivo by 1H magnetic resonance spectroscopy …
Urinary antibiotic exposure across pregnancy from Chinese pregnant women and health risk assessment: Repeated measures analysis.
Geng M, Liu K, Huang K, Zhu Y, Ding P, Zhang J, Wang B, Liu W, Han Y, Gao H, Wang S, Chen G, Wu X, Tao F. Geng M, et al. Environ Int. 2020 Dec;145:106164. doi: 10.1016/j.envint.2020.106164. Epub 2020 Oct 6. Environ Int. 2020. PMID: 33035894 Free article.
Multiple antibiotics are widely used in clinic practice and livestock husbandry, but exposure data based on repeated measurements are scarce among pregnant women. Here, we biomonitored 41 antibiotics and their two metabolites in urine samples from 3235 pregnant wome …
Multiple antibiotics are widely used in clinic practice and livestock husbandry, but exposure data based on repeated measurements are scarce …
Catecholamine phenotyping: clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders.
Goldstein DS, Lenders JW, Kaler SG, Eisenhofer G. Goldstein DS, et al. J Neurochem. 1996 Nov;67(5):1781-90. doi: 10.1046/j.1471-4159.1996.67051781.x. J Neurochem. 1996. PMID: 8863481 Review.
One purpose of clinical neurochemistry has been to indicate "activities" of catecholamine systems, by assaying levels of the effector compounds or their metabolites in body fluids such as plasma, cerebrospinal fluid, urine, or microdialysate. ...These neuroch …
One purpose of clinical neurochemistry has been to indicate "activities" of catecholamine systems, by assaying levels of the effector …
Preconception exposure to environmental antibiotics among childbearing couples in Anhui and health risk assessment: A multicenter population-based representative study.
Wang B, Geng M, Li M, Wang X, Gan H, Tang Y, Yang Q, Liu Y, Yang X, Wang S, Liu K, Wei Z, Shao S, Zhu P, Cao Y, Tao F. Wang B, et al. Ecotoxicol Environ Saf. 2023 Oct 15;265:115514. doi: 10.1016/j.ecoenv.2023.115514. Epub 2023 Sep 30. Ecotoxicol Environ Saf. 2023. PMID: 37783111 Free article.
Overall, 1500 childbearing couples were randomly selected from the Reproductive Health of Childbearing Couples - Anhui Cohort (RHCC-AC). The urinary levels of 40 antibiotics and 2 metabolites were determined, and specific gravity (SG) adjusted concentrations of anti …
Overall, 1500 childbearing couples were randomly selected from the Reproductive Health of Childbearing Couples - Anhui Cohort (RHCC-AC). The …
Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid.
Zhang Y, Yang YL, Hasegawa Y, Yamaguchi S, Shi CY, Song JQ, Sayami S, Liu P, Yan R, Dong JH, Qin J. Zhang Y, et al. Chin Med J (Engl). 2008 Feb 5;121(3):216-9. Chin Med J (Engl). 2008. PMID: 18298912
In the other six pregnancies, all the levels of the above mentioned metabolites were normal suggesting that the fetuses were not affected by MMA. The diagnoses were confirmed after delivery by testing urinary organic acids and plasma total homocysteine. CONCLUSIONS: …
In the other six pregnancies, all the levels of the above mentioned metabolites were normal suggesting that the fetuses were n …
Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome.
Shackleton CH, Roitman E, Kratz L, Kelley R. Shackleton CH, et al. Prenat Diagn. 2001 Mar;21(3):207-12. doi: 10.1002/1097-0223(200103)21:3<207::aid-pd27>3.0.co;2-i. Prenat Diagn. 2001. PMID: 11260610
Because it had previously been shown that dehydro-oestriol and dehydropregnanetriol were novel steroids produced in SLOS, these compounds were measured in the serum and urine samples of the 13 mothers. All five urine samples from SLOS affected pregnancies had high …
Because it had previously been shown that dehydro-oestriol and dehydropregnanetriol were novel steroids produced in SLOS, these compounds we …
Tenofovir disoproxil fumarate: a nucleotide reverse transcriptase inhibitor for the treatment of HIV infection.
Fung HB, Stone EA, Piacenti FJ. Fung HB, et al. Clin Ther. 2002 Oct;24(10):1515-48. doi: 10.1016/s0149-2918(02)80058-3. Clin Ther. 2002. PMID: 12462284 Review.
This reduction in the phosphorylation requirement has the potential to produce more rapid and complete conversion of the drug to its pharmacologically active metabolite. OBJECTIVE: This article describes the pharmacologic properties and potential clinical usefulness of ten …
This reduction in the phosphorylation requirement has the potential to produce more rapid and complete conversion of the drug to its pharmac …
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, Kishnani PS, McDonald MT, Chaing S, Boney A, Moore E, Frazier DM. Koeberl DD, et al. J Inherit Metab Dis. 2003;26(1):25-35. doi: 10.1023/a:1024015227863. J Inherit Metab Dis. 2003. PMID: 12872837
Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elevated 3-hydroxyisovalerylcarnitine (C5OH) levels have been evaluated for evidence of inborn errors of metabolism associated with this …
Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elev …
Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment.
Knorr D, Bidlingmaier F, Höller W, Kuhnle U. Knorr D, et al. J Steroid Biochem. 1983 Jul;19(1B):645-53. doi: 10.1016/0022-4731(83)90231-5. J Steroid Biochem. 1983. PMID: 6887889
The various forms of enzyme defects can be diagnosed by determining specific plasma steroids or specific urinary steroid metabolites. A new semi-automatic capillary gas liquid chromatography method has been introduced for the diagnosis of CAH and assessment of therapy …
The various forms of enzyme defects can be diagnosed by determining specific plasma steroids or specific urinary steroid metabolites. …
Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior.
Pan LA, Martin P, Zimmer T, Segreti AM, Kassiff S, McKain BW, Baca CA, Rengasamy M, Hyland K, Walano N, Steinfeld R, Hughes M, Dobrowolski SK, Pasquino M, Diler R, Perel J, Finegold DN, Peters DG, Naviaux RK, Brent DA, Vockley J. Pan LA, et al. Am J Psychiatry. 2017 Jan 1;174(1):42-50. doi: 10.1176/appi.ajp.2016.15111500. Epub 2016 Aug 13. Am J Psychiatry. 2017. PMID: 27523499 Free PMC article.
RESULTS: CSF metabolite abnormalities were identified in 21 of the 33 participants with treatment-refractory depression. ...None of the healthy comparison subjects had a metabolite abnormality. CONCLUSIONS: Examination of metabolic disorders in treatme …
RESULTS: CSF metabolite abnormalities were identified in 21 of the 33 participants with treatment-refractory depression. ...No …
19 results