Literature DB >> 19155540

Adult issues in phenylketonuria.

M P A Hoeks1, M den Heijer, M C H Janssen.   

Abstract

Phenylketonuria (PKU) is a classical example of an inherited metabolic disease, in which mental retardation can be prevented successfully by using a diet. However, in adult PKU new problems occur, such as vitamin deficiencies, osteoporosis and the maternal PKU syndrome. The aim of this review article is to provide guidelines for the clinician to understand and manage PKU in adults.

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Year:  2009        PMID： 19155540

Source DB:  PubMed          Journal:  Neth J Med        ISSN： 0300-2977            Impact factor:   1.422


  12 in total

1.  Transition of young adults with phenylketonuria from pediatric to adult care.

Authors:  Ulrike Mütze; Annika Roth; Johannes F W Weigel; Skadi Beblo; Christoph G Baerwald; Peter Bührdel; Wieland Kiess
Journal:  J Inherit Metab Dis       Date:  2011-02-09       Impact factor: 4.982

2.  Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase.

Authors:  Ilaria Roato; Francesco Porta; Alessandro Mussa; Lucia D'Amico; Ludovica Fiore; Davide Garelli; Marco Spada; Riccardo Ferracini
Journal:  PLoS One       Date:  2010-11-30       Impact factor: 3.240

3.  Dietary habits and metabolic control in adolescents and young adults with phenylketonuria: self-imposed protein restriction may be harmful.

Authors:  A M Das; K Goedecke; U Meyer; N Kanzelmeyer; S Koch; S Illsinger; T Lücke; H Hartmann; K Lange; H Lanfermann; L Hoy; X-Q Ding
Journal:  JIMD Rep       Date:  2013-11-13

4.  Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

Authors:  Andrew K Sobering; Dong Li; Jennifer S Beighley; John C Carey; Tyhiesia Donald; Sarah H Elsea; Karla P Figueroa; Jennifer Gerdts; Andre Hamlet; Ghayda M Mirzaa; Beverly Nelson; Stefan M Pulst; Janice L Smith; Flora Tassone; Helga V Toriello; Ruth H Walker; Katherine R Yearwood; Elizabeth J Bhoj
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-12-04       Impact factor: 3.908

Review 5.  Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System.

Authors:  Juan Marcos Mucci; Paula Rozenfeld
Journal:  J Immunol Res       Date:  2015-05-03       Impact factor: 4.818

6.  Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.

Authors:  Chiara Cazzorla; Luca Cegolon; Alessandro P Burlina; Andrea Celato; Pamela Massa; Laura Giordano; Giulia Polo; Aurora Daniele; Francesco Salvatore; Alberto B Burlina
Journal:  BMC Public Health       Date:  2014-12-04       Impact factor: 3.295

7.  Phenylketonuria (PKU): A problem solved?

Authors:  Christine S Brown; Uta Lichter-Konecki
Journal:  Mol Genet Metab Rep       Date:  2015-12-29

8.  The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages.

Authors:  Cristina Romani; Liana Palermo; Anita MacDonald; Ellie Limback; S Kate Hall; Tarekegn Geberhiwot
Journal:  Neuropsychology       Date:  2017-03       Impact factor: 3.295

9.  Requirements for a minimum standard of care for phenylketonuria: the patients' perspective.

Authors:  Tobias S Hagedorn; Paul van Berkel; Gregor Hammerschmidt; Markéta Lhotáková; Rosalia Pasqual Saludes
Journal:  Orphanet J Rare Dis       Date:  2013-12-17       Impact factor: 4.123

10.  A systematic review of cognitive functioning in early treated adults with phenylketonuria.

Authors:  Denise Leonne Hofman; Claire Louise Champ; Clare Louise Lawton; Mick Henderson; Louise Dye
Journal:  Orphanet J Rare Dis       Date:  2018-08-30       Impact factor: 4.123
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