Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). Discover the latest research on phenylketonuria here.

October 20, 2020
Comment / Editorial
Open Access

A Visit with Dr. Louis Woolf, Recognizing His 100th Birthday and His Contributions to the Diagnosis and Treatment of Phenylketonuria

International Journal of Neonatal Screening
R Rodney Howell, Graham Sinclair
October 22, 2020

Minimal Change Disease and Phenylketonuria in an Adult Patient: The Two Sides of Protein Homeostasis

European Journal of Case Reports in Internal Medicine
Cristina Pires CorreiaJorge Almeida
September 16, 2020

Aging Dependent Morphological Crystallinity Determines Membrane Activity of L-Phenylalanine Self-Assembles

The Journal of Physical Chemistry Letters
Pavel BanerjeeNilmoni Sarkar
September 26, 2020
Open Access

A Data-Driven Approach to Carrier Screening for Common Recessive Diseases

Journal of Personalized Medicine
Anna V KiselevaOxana M Drapkina
August 26, 2020
Open Access

InOperando X-ray Studies of High-Performance Lithium-Ion Storage in Keplerate-Type Polyoxometalate Anodes

ACS Applied Materials & Interfaces
Chia-Ching LinHan-Yi Chen
October 17, 2020
Open Access

Triclocarban, Triclosan, Bromochlorophene, Chlorophene, and Climbazole Effects on Nuclear Receptors: An in Silico and in Vitro Study

Environmental Health Perspectives
Maša KendaMarija Sollner Dolenc
September 30, 2020

High-resolution multi-T1 -weighted contrast and T1 mapping with low B 1 >+ sensitivity using the fluid and white matter suppression (FLAWS) sequence at 7T

Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine
Jérémy BeaumontJurgen Fripp
August 26, 2020

The psychosocial burden of inflammatory bowel disease in adolescents and young adults

Internal Medicine Journal
Jessica HalloranSimon Denny
September 22, 2020

Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners

Journal for Specialists in Pediatric Nursing : JSPN
Tracy Brock LoweGeorgianne L Arnold
October 6, 2020
Open Access

Prospects for observing and localizing gravitational-wave transients with Advanced LIGO, Advanced Virgo and KAGRA

Living Reviews in Relativity
B P AbbottKAGRA Collaboration, LIGO Scientific Collaboration and Virgo Collaboration
September 10, 2020
Open Access

Treatment of classic phenylketonuria in Poland in the years 2009-2015 based on the database of the Polish National Health Fund

Pediatric endocrinology, diabetes, and metabolism
Agnieszka SzypowskaJoanna Taybert
September 5, 2020
Open Access

Dietary intake and nutritional status of patients with phenylketonuria in Taiwan

Scientific Reports
Hui-Ling WengYin-Hsiu Chien
September 10, 2020
Open Access

The Impact of the Use of Glycomacropeptide on Satiety and Dietary Intake in Phenylketonuria

Anne DalyAnita MacDonald
August 22, 2020
Open Access

Phenylketonuria, from diet to gene therapy

Médecine sciences : M/S
Arnaud WiedemannFeillet François
September 4, 2020

Validation and utility study of the 10 item brief adult health capital scale (BACHS-10)

Journal of Health Psychology
Matthew Hanauer, Dubravka Svetina Valdivia
August 29, 2020
Open Access

A visible light-mediated, decarboxylative, desulfonylative Smiles rearrangement for general arylethylamine syntheses

Chemical Communications : Chem Comm
David M WhalleyMichael F Greaney

Sign up to follow this feed and discover related papers.

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused as a result of a partial deletion of chromosome 22. Here is the latest research.

4H Leukodystrophy

4H Lekodystrophy involves hypomyelination, hypogonadotropic hypogonadism and hypodontia. It is also known as POLR-3Related Leukodystrophy. 4H syndrome symptoms include delayed or abnormal puberty, issues with central nervous system signal transmission, abnormal development of teeth, and symptoms tend to progressively get worse over time. There is not yet a known cure.

AAV-based Gene Therapy

Adeno-associated virus (AAV)-based gene therapy is a biological vector that is being researched to be used as a potential therapeutic option. This gene therapy is designed to insert fragments of DNA into targeted cells to help treat diseases, such as hemophilia a. Discover the latest research on AAV-based gene therapy here.


Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

Acute Myeloid Leukaemia & RNA

Acute myeloid leukaemia (AML) is a common hematological type of cancer. As the population ages, there has been a rise in the frequency of AML. RNA expression has been used to see if there are different genetic profiles that exist within AML and whether these may underpin the variations in survival rates. Here is the latest research on AML and RNA.

Adenomatous Polyposis Coli

Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.

Adult Polyglucosan Body Disease

Adult polyglucosan body disease (APBD) is a rare autosomal recessive disease characterized by defects in the glycogen brancher enzyme 1 (GBE1) gene. Discover the latest research on APBD here.

Alzheimer's Disease: Abeta

Alzheimer's disease (AD) is a chronic neurodegenerative disease associated with accumulation of amyloid plaques, which are comprised of amyloid beta. Here is the latest research in this field.

Alzheimer's Disease: Genetics

Alzheimer's disease is a chronic neurodegenerative disease. Discover genetic and epigenetic aspects of Alzheimer’s disease, including genetic markers and genomic structural variations here.

© 2020 Meta ULC. All rights reserved