Literature DB >> 21745202

Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1.

Corinne De Laet, Vanessa Terrones Munoz, Jaak Jaeken, Baudouin François, Dietbrandt Carton, Etienne M Sokal, Bernard Dan, Philippe J Goyens.   

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Year:  2011        PMID： 21745202     DOI： 10.1111/j.1469-8749.2011.04048.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


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  26 in total

1.  Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.

Authors:  Manuel Schiff; Pierre Broue; Brigitte Chabrol; Corinne De Laet; Dalila Habes; Karine Mention; Jacques Sarles; Anne Spraul; Vassili Valayannopoulos; Hélène Ogier de Baulny
Journal:  J Inherit Metab Dis       Date:  2011-12-14       Impact factor: 4.982

2.  Abnormal social behavior in mice with tyrosinemia type I is associated with an increase of myelin in the cerebral cortex.

Authors:  Marissa E Moore; Ashton E Koenig; Megan A Hillgartner; Christopher C Otap; Elizabeth Barnby; Gordon G MacGregor
Journal:  Metab Brain Dis       Date:  2017-07-15       Impact factor: 3.584

3.  Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice.

Authors:  Megan A Hillgartner; Sarah B Coker; Ashton E Koenig; Marissa E Moore; Elizabeth Barnby; Gordon G MacGregor
Journal:  J Inherit Metab Dis       Date:  2016-06-06       Impact factor: 4.982

4.  Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

Authors:  Danique van Vliet; Esther van Dam; Margreet van Rijn; Terry G J Derks; Gineke Venema-Liefaard; Marrit M Hitzert; Roelineke J Lunsing; M Rebecca Heiner-Fokkema; Francjan J van Spronsen
Journal:  JIMD Rep       Date:  2014-09-26

5.  Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC.

Authors:  Helen Walker; Mervi Pitkanen; Yusof Rahman; Sally F Barrington
Journal:  JIMD Rep       Date:  2017-11-16

6.  Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment.

Authors:  A S Davison; B Norman; A M Milan; A T Hughes; M Khedr; J Rovensky; J A Gallagher; L R Ranganath
Journal:  JIMD Rep       Date:  2017-11-17

Review 7.  Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.

Authors:  Jean-Baptiste Arnoux; Kim-Hanh Le Quan Sang; Anais Brassier; Coraline Grisel; Aude Servais; Julien Wippf; Sandrine Dubois; Nicolas Sireau; Chantal Job-Deslandre; Lakshminarayan Ranganath; Pascale de Lonlay
Journal:  J Inherit Metab Dis       Date:  2015-04-10       Impact factor: 4.982

8.  What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?

Authors:  Esther van Dam; Anne Daly; Gineke Venema-Liefaard; Margreet van Rijn; Terry G J Derks; Patrick J McKiernan; M Rebecca Heiner-Fokkema; Anita MacDonald; Francjan J van Spronsen
Journal:  JIMD Rep       Date:  2017-01-25

9.  Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone.

Authors:  A S Davison; B P Norman; E A Smith; J Devine; J Usher; A T Hughes; M Khedr; A M Milan; J A Gallagher; L R Ranganath
Journal:  JIMD Rep       Date:  2018-05-13

Review 10.  Acute fatal metabolic complications in alkaptonuria.

Authors:  A S Davison; A M Milan; J A Gallagher; L R Ranganath
Journal:  J Inherit Metab Dis       Date:  2015-11-23       Impact factor: 4.982
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