Alternative pathway therapy for urea cycle disorders: twenty years later
about
Suggested guidelines for the diagnosis and management of urea cycle disordersArgininosuccinate lyase deficiencyAdvances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013Drug treatment of inborn errors of metabolism: a systematic reviewAverting the foul taste of pediatric medicines improves adherence and can be lifesaving - Pheburane® (sodium phenylbutyrate)Ammonia toxicity and its prevention in inherited defects of the urea cycleInducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolismRestoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell modelAmmonia toxicity to the brain.Pharmacometabolomics for predicting variable busulfan exposure in paediatric haematopoietic stem cell transplantation patients.Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiencyHistone deacetylase inhibitors potentiate photodynamic therapy in colon cancer cells marked by chromatin-mediated epigenetic regulation of CDKN1A.Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.A longitudinal study of urea cycle disorders.A zebrafish model of hyperammonemia.4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.Current trends in the treatment of hepatic encephalopathy.Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients.Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome.Significant Effects of Oral Phenylbutyrate and Vitamin D3 Adjunctive Therapy in Pulmonary Tuberculosis: A Randomized Controlled Trial.Sustained correction of OTC deficiency in spf( ash) mice using optimized self-complementary AAV2/8 vectors.Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.Emerging chemotherapeutic strategies for Huntington's disease.Idiopathic hyperammonemia after solid organ transplantation: Primarily a lung problem? A single-center experience and systematic review.A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria.Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.Guidelines for acute management of hyperammonemia in the Middle East region.Amino acid conjugation: contribution to the metabolism and toxicity of xenobiotic carboxylic acids.Hyperammonemia encephalopathy: an important cause of neurological deterioration following chemotherapy.Contrasting features of urea cycle disorders in human patients and knockout mouse models.Quantitative Analysis of Single and Mix Food Antiseptics Basing on SERS Spectra with PLSR MethodNutritional management of patients with urea cycle disorders.Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders ConsortiumCross-sectional multicenter study of patients with urea cycle disorders in the United StatesBeneficial Effects of Sodium Phenylbutyrate Administration during Infection with Salmonella enterica Serovar Typhimurium.Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders.
P2860
Q21202856-F1C5B44E-4751-431F-BAF0-9C7DC4A12C21Q24601202-E3B769B0-AC95-4060-9C9F-6B4B29CB7F22Q26860897-8630126A-D66A-4D58-9FF2-48D695586A75Q26864796-647EB08D-C3C6-4E3D-8A55-FF3C14A85BB0Q28071362-E96746D3-3544-4D7F-A830-25631C819E73Q28248702-7CD51679-69EE-40B2-8440-830C72B4567CQ28534802-FD794496-A8CD-4D08-8398-C3F126A502D4Q28820977-B9CB6140-B0C2-462F-B269-CE3D163CD6E1Q30575263-044C30B4-ADA2-425E-A178-A27C42B3001AQ33687277-3DA15291-C39D-4A8D-B2A7-6DC2BCFA0A4EQ33737998-6918C174-A513-440C-A815-D1A0D5EBF889Q33781317-69C5DB20-8B69-457C-BAB7-246D6CA49082Q34039333-FBA8EEBE-BF34-4306-B74B-8ABEB060EB24Q34222287-776E7F8C-05AE-49E3-8AA9-E52393E7FD4AQ34257693-D710D771-F7E1-4B18-A652-E1148A33A7D5Q34257942-0835B492-072C-401A-B5A7-FDDC3B3456BEQ34314609-20D87069-9918-47D8-AC7A-B9ECFB018A72Q34472800-FA44298C-5AC9-4566-A32C-F05FBD999C3BQ34544874-A841D07A-9546-4CAD-9273-ACDE1CE4B08CQ34611198-ED20838D-4BB7-4FB4-9C1C-52D3182210C7Q34775132-44A18FF8-AEDA-47DA-8DB9-63BF134EF963Q34983962-5DC06C7C-F55A-45EF-A9FE-BC9AB6FAE480Q35726773-AD2B8857-AFF3-4F31-81E4-A54EDE0E2B07Q35783492-25A6B259-25D8-496C-A3B0-03F9C351E051Q35874710-70A015CC-AA07-4FAA-B33C-5C14ED1D2FB4Q36036579-382485CA-3E5A-416A-8FE3-43F72C226A46Q36150628-6D82CD78-21F9-4136-A975-369B613DFCC3Q36308601-D818A8B5-2963-445C-9580-F0829CA77958Q36354535-85E81A5A-09FA-4E92-A74A-E8E392706FD6Q36717438-6EECD28A-B972-45F5-8235-CE89D35B6014Q36763624-72F8A72B-CAE3-44D9-B7F8-12587B99D70CQ36788394-B9585E03-1DE5-487D-890A-F19E95426C40Q36929667-CC394FFF-273F-4CCC-A1D0-E243179D98B8Q36969510-098FD37B-6DD7-404F-A22D-14F7370F52E3Q37004540-D6F6E488-A0BD-4433-95D8-EDF14BA12E1FQ37011850-BD1161CA-471E-4207-80D1-135BF04EE7B4Q37038752-84C0CC48-D265-4B9A-909B-8F3E01FBB9F3Q37094116-EC1CAA0B-4B8A-4758-9AEC-76978306E5BFQ37199789-5927FAF4-ED28-472C-8879-EA2636124535Q37353667-FB4B079E-24C2-4E22-ADBC-C12AE035F3BD
P2860
Alternative pathway therapy for urea cycle disorders: twenty years later
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Alternative pathway therapy for urea cycle disorders: twenty years later
@ast
Alternative pathway therapy for urea cycle disorders: twenty years later
@en
Alternative pathway therapy for urea cycle disorders: twenty years later
@nl
type
label
Alternative pathway therapy for urea cycle disorders: twenty years later
@ast
Alternative pathway therapy for urea cycle disorders: twenty years later
@en
Alternative pathway therapy for urea cycle disorders: twenty years later
@nl
prefLabel
Alternative pathway therapy for urea cycle disorders: twenty years later
@ast
Alternative pathway therapy for urea cycle disorders: twenty years later
@en
Alternative pathway therapy for urea cycle disorders: twenty years later
@nl
P2093
P3181
P356
P1476
Alternative pathway therapy for urea cycle disorders: twenty years later
@en
P2093
M L Batshaw
R B MacArthur
P304
S46-54; discussion S54-5
P3181
P356
10.1067/MPD.2001.111836
P407
P433
P577
2001-01-01T00:00:00Z