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1.
The Indicator Amino Acid Oxidation Method with the Use of l-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria.
J Nutr
; 147(2): 211-217, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28053173
2.
Metabolic Diet App Suite for inborn errors of amino acid metabolism.
Mol Genet Metab
; 117(3): 322-7, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26748688
3.
Minimally invasive (13)C-breath test to examine phenylalanine metabolism in children with phenylketonuria.
Mol Genet Metab
; 115(2-3): 78-83, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25943030
4.
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.
Mol Genet Metab
; 114(3): 409-14, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25497838
5.
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.
Mol Genet Metab
; 108(4): 255-8, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23465864
6.
Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices.
Orphanet J Rare Dis
; 14(1): 7, 2019 01 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30621767
7.
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
JIMD Rep
; 15: 1-11, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24748525
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