New challenges in management of phenylketonuria in pregnancy: a case report. [PDF]
J Med Case Rep, 2023 Ugalde-Abiega B +4 more
europepmc +1 more source
SCIENTIFIC CONTRIBUTION TO TECHNOLOGICAL INNOVATION: ANALYSIS OF RESEARCH STRATEGIES IN REFERENCE DATABASES. [PDF]
, 2021 Tesis doctoral en período de exposición públicaDoctorado en Tecnología de Invernaderos e Ingeniería Industrial (RD99/11 ...
Cascajares Rupérez, Milagros
core
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study
Journal of Diabetes Investigation, Volume 16, Issue 7, Page 1263-1273, July 2025.Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba +5 more
wiley +1 more source
FENILCETONÚRIA: UMA REVISÃO DE LITERATURA [PDF]
, 2014 A Fenilcetonúria, causada pela deficiência da enzima fenilalanina hidroxilase e a causa mais frequente de retardo mental, desponta como a mais comum das doenças que envolvem erros congênitos.
Ascenso Rosa, Ruy Roberto Porto +2 more
core +1 more source
The nutritional profiling of special feeds for phenylketonuria [PDF]
, 2021 In children with classical phenylketonuria (PKU), a lifelong low phenylalanine diet is the only treatment option with natural protein (phenylalanine) intake restricted to < 20% of safe recommended intake [1] to minimise neurological damage. The diet must
Daly, Anne
core
Systematic Review and Meta-Analysis of Dietary Interventions and Microbiome in Phenylketonuria. [PDF]
Int J Mol Sci, 2023 Ubaldi F +5 more
europepmc +1 more source
The Shared Genetic Architecture of Modifiable Risk for Dementia and its Influence on Brain Health [PDF]
, 2022 Targeting modifiable risk factors for dementia may prevent or delay dementia. However, the mechanisms by which risk factors influence dementia remain unclear and current research often ignores commonality between risk factors.
Foote, I
core
Advanced MR imaging features of uncontrolled phenylketonuria in an adult patient. [PDF]
Arq Neuropsiquiatr, 2023 Ayasli A, Ogul H, Onbas O.
europepmc +1 more source
Treatment of Phenylketonuria with a Diet Low in Phenylalanine [PDF]
, 1955 L. I. Woolf +2 more
openalex +1 more source
An Improved Test for Phenylketonuria [PDF]
, 1959 Chauncey O. Rupe, Alfred H. Free
openalex +1 more source