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2002 1
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44 results

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Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C. Häberle J, et al. J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15. J Inherit Metab Dis. 2019. PMID: 30982989 Review.
In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCDs). With 1:35 000 estimated incidence, UCDs cause hyperammonemia of neonatal (~50%) or late onset that can lead to intellectual disability o …
In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCD …
Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review.
Manciu S, Matei E, Trandafir B. Manciu S, et al. Chirurgia (Bucur). 2017 Mar-Apr;112(2):110-116. doi: 10.21614/chirurgia.112.2.110. Chirurgia (Bucur). 2017. PMID: 28463670 Free article. Review.
Hereditary spherocytosis (HS) is a disease affecting the red blood cells membrane and belongs to the congenital hemolytic anemias. ...The diagnosis can be based on the physical examination, complete red blood cell count, reticulocytes count, medical history and specific te …
Hereditary spherocytosis (HS) is a disease affecting the red blood cells membrane and belongs to the congenital hemolytic anemias. .. …
Immunological and toxicological risk assessment of e-cigarettes.
Kaur G, Pinkston R, Mclemore B, Dorsey WC, Batra S. Kaur G, et al. Eur Respir Rev. 2018 Feb 28;27(147):170119. doi: 10.1183/16000617.0119-2017. Print 2018 Mar 31. Eur Respir Rev. 2018. PMID: 29491036 Free PMC article. Review.
Electronic nicotine delivery systems (or e-cigs) are an alternative to traditional cigarettes for the delivery of nicotine and are typically filled with glycerol or propylene glycol-based solutions known as e-liquids. Though present in lower quantities, e-cig aerosols are …
Electronic nicotine delivery systems (or e-cigs) are an alternative to traditional cigarettes for the delivery of nicotine and are typically …
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
Posset R, Kölker S, Gleich F, Okun JG, Gropman AL, Nagamani SCS, Scharre S, Probst J, Walter ME, Hoffmann GF, Garbade SF, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group. Posset R, et al. Mol Genet Metab. 2020 Dec;131(4):390-397. doi: 10.1016/j.ymgme.2020.10.013. Epub 2020 Nov 7. Mol Genet Metab. 2020. PMID: 33288448 Free PMC article.
The aim of this study was to assess the impact of NBS on the metabolic disease course and clinical outcome of affected individuals. METHODS: In 115 individuals with CTLN1 and ASA, we compared the severity of the initial hyperammonemic episode (HAE) and the frequency …
The aim of this study was to assess the impact of NBS on the metabolic disease course and clinical outcome of affected individ …
Treatment and management for children with urea cycle disorder in chronic stage.
Huang X. Huang X. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Oct 3;52(6):744-750. doi: 10.3724/zdxbyxb-2023-0378. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 37807629 Free PMC article. Chinese, English.
Liver transplantation is recommended for pediatric patients not responding to standard diet and drug treatment, and those with severe progressive liver disease and/or recurrent metabolic decompensations. Gene therapy, stem cell therapy, enzyme thera …
Liver transplantation is recommended for pediatric patients not responding to standard diet and drug treatment, and those with severe progre …
Lipoprotein Lipase: Is It a Magic Target for the Treatment of Hypertriglyceridemia.
Moon JH, Kim K, Choi SH. Moon JH, et al. Endocrinol Metab (Seoul). 2022 Aug;37(4):575-586. doi: 10.3803/EnM.2022.402. Epub 2022 Aug 29. Endocrinol Metab (Seoul). 2022. PMID: 36065644 Free PMC article. Review.
High levels of triglycerides (TG) and triglyceride-rich lipoproteins (TGRLs) confer a residual risk of cardiovascular disease after optimal low-density lipoprotein cholesterol (LDL-C)-lowering therapy. ...In this article, we focus on the biology of LPL and its modul …
High levels of triglycerides (TG) and triglyceride-rich lipoproteins (TGRLs) confer a residual risk of cardiovascular disease after o …
Management of elevated intracranial pressure.
Woster PS, LeBlanc KL. Woster PS, et al. Clin Pharm. 1990 Oct;9(10):762-72. Clin Pharm. 1990. PMID: 2242656 Review.
Pentobarbital serum concentrations should be determined every 24-48 hours when a patient is in a barbiturate coma because pentobarbital clearance increases with continued high-dose therapy. The treatment of elevated ICP requires aggressive therapy and intensive moni …
Pentobarbital serum concentrations should be determined every 24-48 hours when a patient is in a barbiturate coma because pentobarbital clea …
Untargeted metabolomics: an overview of its usefulness and future potential in prenatal diagnosis.
Parfieniuk E, Zbucka-Kretowska M, Ciborowski M, Kretowski A, Barbas C. Parfieniuk E, et al. Expert Rev Proteomics. 2018 Oct;15(10):809-816. doi: 10.1080/14789450.2018.1526678. Epub 2018 Oct 4. Expert Rev Proteomics. 2018. PMID: 30239246 Review.
Expert commentary: Untargeted metabolomics is a powerful tool which can shed a new light on prenatal diagnostics. It helps to discover affected metabolic pathways what may help to reveal disease pathogenesis and propose potential biomarkers. Among others, glycero …
Expert commentary: Untargeted metabolomics is a powerful tool which can shed a new light on prenatal diagnostics. It helps to discover affec …
Treatment of cervicothoracic pain and cervicogenic headaches with regenerative injection therapy.
Linetsky FS, Miguel R, Torres F. Linetsky FS, et al. Curr Pain Headache Rep. 2004 Feb;8(1):41-8. doi: 10.1007/s11916-004-0039-3. Curr Pain Headache Rep. 2004. PMID: 14731382 Review.
Regenerative injection therapy, also known as prolotherapy, is a viable, type-specific treatment for such pathology. Several placebo-controlled studies, together with uncontrolled studies, indicate the effectiveness of regenerative injection therapy in treating pain …
Regenerative injection therapy, also known as prolotherapy, is a viable, type-specific treatment for such pathology. Several placebo- …
The blood-brain barrier in migraine treatment.
Edvinsson L, Tfelt-Hansen P. Edvinsson L, et al. Cephalalgia. 2008 Dec;28(12):1245-58. doi: 10.1111/j.1468-2982.2008.01675.x. Epub 2008 Aug 22. Cephalalgia. 2008. PMID: 18727638 Review.
The human experimental headache model, especially the use of glycerol trinitrate (the nitric oxide model), and experiences with CGRP administrations utilize the systemic administration of the agonists with effects on other vascular beds also. ...
The human experimental headache model, especially the use of glycerol trinitrate (the nitric oxide model), and experiences with CGRP …
44 results