[HTML][HTML] The complete European guidelines on phenylketonuria: diagnosis and treatment
AMJ Van Wegberg, A MacDonald, K Ahring… - Orphanet journal of rare …, 2017 - Springer
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism
caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine …
caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine …
[HTML][HTML] Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the
accumulation of phenylalanine in the blood of affected individuals and was the first inborn …
accumulation of phenylalanine in the blood of affected individuals and was the first inborn …
Phenylketonuria
N Blau, FJ Van Spronsen, HL Levy - The Lancet, 2010 - thelancet.com
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid
metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes …
metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes …
Key European guidelines for the diagnosis and management of patients with phenylketonuria
FJ Van Spronsen, AMJ van Wegberg… - The lancet Diabetes & …, 2017 - thelancet.com
We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the
guidelines, we did a literature search, critical appraisal, and evidence grading according to …
guidelines, we did a literature search, critical appraisal, and evidence grading according to …
[图书][B] Human motor development: A lifespan approach
VG Payne, LD Isaacs - 2017 - taylorfrancis.com
This book provides an overview of human development and includes the relationship
between motor development and cognitive and social development. It explores factors …
between motor development and cognitive and social development. It explores factors …
Phenylketonuria Scientific Review Conference: state of the science and future research needs
KM Camp, MA Parisi, PB Acosta, GT Berry… - Molecular genetics and …, 2014 - Elsevier
New developments in the treatment and management of phenylketonuria (PKU) as well as
advances in molecular testing have emerged since the National Institutes of Health 2000 …
advances in molecular testing have emerged since the National Institutes of Health 2000 …
[HTML][HTML] Psychiatric and cognitive aspects of phenylketonuria: the limitations of diet and promise of new treatments
Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to
mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in …
mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in …
[HTML][HTML] Phenylalanine hydroxylase deficiency
JJ Mitchell, YJ Trakadis, CR Scriver - Genetics in medicine, 2011 - Elsevier
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in
intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in …
intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in …
[HTML][HTML] Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
RH Singh, F Rohr, D Frazier, A Cunningham… - Genetics in …, 2014 - Elsevier
The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals
with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since …
with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since …