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Academic Journal

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

  • Authors : Mayorandan S; Clinic for Paediatric Kidney-, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Str.1, D-30625, Hannover, Germany. .; Meyer U

Subjects: Cyclohexanones/Cyclohexanones/Cyclohexanones/*therapeutic use ; Enzyme Inhibitors/Enzyme Inhibitors/Enzyme Inhibitors/*therapeutic use ; Neonatal Screening/Neonatal Screening/Neonatal Screening/*methods

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Aug 01; Vol. 9, pp. 107. Date of Electronic Publication: 2014 Aug 01.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

  • Authors : van Vliet K; Beatrix Children's Hospital, Groningen, Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, CA33, PO box 30.001, 9700 RB, Groningen, Netherlands.; van Ginkel WG

Subjects: Cyclohexanones/Cyclohexanones/Cyclohexanones/*therapeutic use ; Nitrobenzoates/Nitrobenzoates/Nitrobenzoates/*therapeutic use ; Tyrosinemias/Tyrosinemias/Tyrosinemias/*blood

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Dec 04; Vol. 14 (1), pp. 285. Date of Electronic Publication: 2019 Dec 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.

  • Authors : Geppert J; Warwick Medical School, University of Warwick, Coventry, CV4 7AL, UK.; Stinton C

Subjects: Cyclohexanones/Cyclohexanones/Cyclohexanones/*therapeutic use ; Nitrobenzoates/Nitrobenzoates/Nitrobenzoates/*therapeutic use ; Tyrosinemias/Tyrosinemias/Tyrosinemias/*drug therapy

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Sep 11; Vol. 12 (1), pp. 154. Date of Electronic Publication: 2017 Sep 11.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Chemotaxis of Burkholderia sp. strain SJ98 towards chloronitroaromatic compounds that it can metabolise.

  • Authors : Pandey J; Institute of Microbial Technology, Sector 39A, Chandigarh 160036, India.; Sharma NK

Subjects: Chemotaxis*; Burkholderia/Burkholderia/Burkholderia/*physiology ; Hydrocarbons, Aromatic/Hydrocarbons, Aromatic/Hydrocarbons, Aromatic/*metabolism

  • Source: BMC microbiology [BMC Microbiol] 2012 Feb 01; Vol. 12, pp. 19. Date of Electronic Publication: 2012 Feb 01.Publisher: BioMed Central Country of Publication: England NLM ID: 100966981 Publication Model: Electronic Cited Medium:

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Academic Journal

Clinical development innovation in rare diseases: overcoming barriers to successful delivery of a randomised clinical trial in alkaptonuria-a mini-review.

  • Authors : Ranganath LR; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, L7 8TX, UK.

Subjects: Alkaptonuria*/Alkaptonuria*/Alkaptonuria*/drug therapy; Humans ; Rare Diseases/Rare Diseases/Rare Diseases/drug therapy

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jan 04; Vol. 18 (1), pp. 1. Date of Electronic Publication: 2023 Jan 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Editorial & Opinion

Preventive use of nitisinone in alkaptonuria.

  • Authors : Wolffenbuttel BHR; Department of Internal Medicine, Division of Endocrinology, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands. .; Heiner-Fokkema MR

Subjects: Alkaptonuria*/Alkaptonuria*/Alkaptonuria*/drug therapy; Cyclohexanones/Cyclohexanones/Cyclohexanones/therapeutic use ; Humans

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Aug 03; Vol. 16 (1), pp. 343. Date of Electronic Publication: 2021 Aug 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Treatment adherence in tyrosinemia type 1 patients.

  • Authors : González-Lamuño D; Division of Pediatrics, University Hospital Marqués de Valdecilla, Universidad de Cantabria, and Valdecilla Health Research Institute (IDIVAL), Avda. Valdecilla s/n, 39008, Santander, Spain.; Sánchez-Pintos P

Subjects: Tyrosinemias*/Tyrosinemias*/Tyrosinemias*/drug therapy; Adolescent ; Adult

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Jun 03; Vol. 16 (1), pp. 256. Date of Electronic Publication: 2021 Jun 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Type 1 tyrosinemia in Finland: a nationwide study.

  • Authors : Äärelä L; Center for Child Health Research, Tampere University, Tampere, Finland.; Hiltunen P

Subjects: Tyrosinemias*/Tyrosinemias*/Tyrosinemias*/diagnosis ; Tyrosinemias*/Tyrosinemias*/Tyrosinemias*/drug therapy; Child

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Oct 12; Vol. 15 (1), pp. 281. Date of Electronic Publication: 2020 Oct 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Role of intestinal microbiota in colon cancer prevention.

  • Source: Annals of Microbiology; Mar2012, Vol. 62 Issue 1, p15-30, 16p

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  • 1-10 of  18 results for ""Nitrobenzoates""