Results 111 to 120 of about 16,232 (245)

Phenylketonuria as an Adherence Disease

Gérard Reach Health Education and Promotion Laboratory, Sorbonne Paris Nord University, Bobigny, FranceCorrespondence: Gérard Reach, Health Education and Promotion Laboratory, Sorbonne Paris Nord University, 74 Rue Marcel Cachin, Bobigny, 93000, France ...
Reach G
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Enhancement of therapeutic transgene insertion for treatment of murine phenylketonuria

Molecular Therapy: Nucleic Acids
Low in vivo transgene integration frequency limits the therapeutic efficacy of homology-directed repair (HDR) as a treatment for genetic disorders. This study demonstrates improved efficacy of HDR-mediated gene insertion for the treatment of murine ...
Michael A. Martinez, Daelyn Y. Richards, Shelley R. Winn, Adrian M. Baris, Anne Vonada, Laura Harper, Cary O. Harding   +6 more
doaj   +1 more source

Adults with untreated Phenylketonuria: out of sight, out of mind?

, 2008
Some people with phenylketonuria who were born before screening began were never treated and are still alive. Here we report that far fewer people with untreated phenylketonuria were detected than are thought to exist (about 2000).
Weetch, Eleanor, Johnson, Sally M., Fitzgerald, Brian, Amos, Allayne, Hoskins, Rosemary, Robertson, Lesley, Lee, Philip, Murphy, Glynis H., Lilburn, Maggie   +8 more
core   +1 more source

Psychical problems of people suffering from phenylketonuria

, 2017
The bachelor thesis called "The psychical problems of people suffering from phenylketonuria" attempts to introduce the life of the people who were born with phenylketonuria diagnosis.
NENADÁLOVÁ, Lucie
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Maternal Phenylketonuria [PDF]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1998
H, Wilkinson, I B, Holbrook
openaire   +2 more sources

Screening for Phenylketonuria in a Totalitarian State

, 1992
Bulgari
Kremensky, Ivo, Kalaydjieva, Luba
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Comparison of the physical health in adult patients with phenylketonuria (PKU) and healthy age-matched controls [PDF]

, 2009
Berlepsch, Juliana Freiin von, Freiin von Berlepsch, Juliana   +1 more
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Cardiac manifestation of phenylketonuria in adulthood

Introduction: Since the introduction of mandatory infant screening for 26 hereditary metabolic diseases from a drop of blood, many rare diseases – including phenylketonuria (PKU) – have been recognized in time.
Orsolya Lovász, Péter Homródi, Gábor Zoltán Duray, Emese Tóth-Zsámboki, Róbert Gábor Kiss   +4 more
core   +1 more source

Nutritional Status and Physical Activity Levels in Adult Patients with Phenylketonuria. [PDF]

Nutrients
Kalkan D, Yıldız Y, Karanfil Y, Korkusuz F, Dursun A, Sivri S, Gökmen Özel H.   +6 more
europepmc   +1 more source

BIRTH WEIGHT OF IRANIAN CHILDREN WITH PHENYLKETONURIA

, 2013
Cilj studije je bio procijeniti postoji li razlika u porođajnoj masi u djece s fenilketonurijom u Iranu u odnosu na kontrolnu skupinu. Porođajna masa 118 bolesnika s fenilketonurijom uspoređena je s porođajnom masom 264 zdrave kontrolne osobe jednake ...
Alaei, Mohammadreza, Azargashb, Eznollah, Totonchi, Glareh, Rohani, Farzaneh   +3 more
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