Literature DB >> 28842158

Issues with European guidelines for phenylketonuria.

Peter Burgard1, Kurt Ullrich2, Diana Ballhausen3, Julia B Hennermann4, Carla E M Hollak5, Mirjam Langeveld5, Daniela Karall6, Vassiliki Konstantopoulou7, Esther M Maier8, Frauke Lang4, Robin Lachmann9, Elaine Murphy9, Sven Garbade10, Georg F Hoffmann10, Stefan Kölker10, Martin Lindner11, Johannes Zschocke12.   

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Year:  2017        PMID： 28842158     DOI： 10.1016/S2213-8587(17)30201-2

Source DB:  PubMed          Journal:  Lancet Diabetes Endocrinol        ISSN： 2213-8587            Impact factor:   32.069


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  10 in total

1.  The influence of blood phenylalanine levels on neurocognitive function in adult PKU patients.

Authors:  A Bartus; F Palasti; E Juhasz; E Kiss; E Simonova; Cs Sumanszki; P Reismann
Journal:  Metab Brain Dis       Date:  2018-06-12       Impact factor: 3.584

2.  Cognitive function in untreated subjects with mild hyperphenylalaninemia: a systematic review.

Authors:  Noushin Rostampour; Rojin Chegini; Silva Hovsepian; Farzaneh Zamaneh; Mahin Hashemipour
Journal:  Neurol Sci       Date:  2022-06-21       Impact factor: 3.830

Review 3.  Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases.

Authors:  Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2018-06-04       Impact factor: 4.982

Review 4.  Phenylketonuria.

Authors:  Francjan J van Spronsen; Nenad Blau; Cary Harding; Alberto Burlina; Nicola Longo; Annet M Bosch
Journal:  Nat Rev Dis Primers       Date:  2021-05-20       Impact factor: 52.329

5.  Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial.

Authors:  Roman Trepp; Raphaela Muri; Stephanie Abgottspon; Lenka Bosanska; Michel Hochuli; Johannes Slotboom; Christian Rummel; Roland Kreis; Regula Everts
Journal:  Trials       Date:  2020-02-13       Impact factor: 2.279

6.  Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels.

Authors:  Cristina Romani; Filippo Manti; Francesca Nardecchia; Federica Valentini; Nicoletta Fallarino; Claudia Carducci; Sabrina De Leo; Anita MacDonald; Liana Palermo; Vincenzo Leuzzi
Journal:  Orphanet J Rare Dis       Date:  2019-11-28       Impact factor: 4.123

7.  Moving through adulthood: The lived experience of Irish adults with PKU.

Authors:  Mary-Ellen O'Shea; Bernadette Sheehan Gilroy; Anna-Marie Greaney; Anita MacDonald
Journal:  Front Psychol       Date:  2022-09-13

8.  Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria.

Authors:  Amelie S Lotz-Havla; Sabrina Katzdobler; Brigitte Nuscher; Katharina Weiß; Johannes Levin; Joachim Havla; Esther M Maier
Journal:  Front Neurol       Date:  2022-09-29       Impact factor: 4.086

Review 9.  Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.

Authors:  Tracy Brock Lowe; Jane DeLuca; Georgianne L Arnold
Journal:  Orphanet J Rare Dis       Date:  2020-09-25       Impact factor: 4.123

Review 10.  A holistic approach to the patients/ Families with inborn errors of metabolism.

Authors:  Peter Burgard
Journal:  J Mother Child       Date:  2020-10-02
  10 in total

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