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Quoted phrase not found in phrase index: "Neutral hyperaminoaciduria"
Page 1
Food triggers and inherited metabolic disorders: a challenge to the pediatrician.
Maines E, Di Palma A, Burlina A. Maines E, et al. Ital J Pediatr. 2018 Jan 25;44(1):18. doi: 10.1186/s13052-018-0456-2. Ital J Pediatr. 2018. PMID: 29368648 Free PMC article. Review.
Nevertheless, in the extensive differential diagnosis, clinicians should also include inherited metabolic disorders (IMDs).This review reports clinical features and diagnostic aspects of the most common IMDs that may present with acute manifestations triggered by food intake. Maj …
Nevertheless, in the extensive differential diagnosis, clinicians should also include inherited metabolic disorders (IMDs).This review repor …
State of the art in muscle lipid diseases.
Liang WC, Nishino I. Liang WC, et al. Acta Myol. 2010 Oct;29(2):351-6. Acta Myol. 2010. PMID: 21314018 Free PMC article. Review.
Fatty acid oxidation in mitochondrial matrix is a major source of energy in muscle, especially when physiological energy demand is increased and exceeds what can be provided through glycolysis. ...So far, causative genes have been identified in four different LSMs, compris …
Fatty acid oxidation in mitochondrial matrix is a major source of energy in muscle, especially when physiological energy demand is in …
Carbohydrate status in patients with phenylketonuria.
Couce ML, Sánchez-Pintos P, Vitoria I, De Castro MJ, Aldámiz-Echevarría L, Correcher P, Fernández-Marmiesse A, Roca I, Hermida A, Martínez-Olmos M, Leis R. Couce ML, et al. Orphanet J Rare Dis. 2018 Jun 27;13(1):103. doi: 10.1186/s13023-018-0847-x. Orphanet J Rare Dis. 2018. PMID: 29945661 Free PMC article.
BACKGROUND: In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known about how these molecules are metabolized in t …
BACKGROUND: In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free ami …
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM. Kruijt CC, et al. Invest Ophthalmol Vis Sci. 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. Invest Ophthalmol Vis Sci. 2022. PMID: 35029636 Free PMC article.
Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU.
Daly A, Evans S, Chahal S, Santra S, Pinto A, Jackson R, Gingell C, Rocha J, Van Spronsen FJ, MacDonald A. Daly A, et al. Orphanet J Rare Dis. 2019 Feb 15;14(1):44. doi: 10.1186/s13023-019-1011-y. Orphanet J Rare Dis. 2019. PMID: 30770754 Free PMC article. Review.
In phenylketonuria, casein glycomacropeptide (CGMP) requires modification with the addition of some essential and semi essential amino acids to ensure suitability as a protein substitute. The optimal amount and ratio of additional amino acids is undefined. AIM: A lo …
In phenylketonuria, casein glycomacropeptide (CGMP) requires modification with the addition of some essential and semi essential amino …
Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center.
Echeverri OY, Guevara JM, Espejo-Mojica ÁJ, Ardila A, Pulido N, Reyes M, Rodriguez-Lopez A, Alméciga-Díaz CJ, Barrera LA. Echeverri OY, et al. Orphanet J Rare Dis. 2018 Aug 16;13(1):141. doi: 10.1186/s13023-018-0879-2. Orphanet J Rare Dis. 2018. PMID: 30115094 Free PMC article. Review.
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the training of different professionals, as well as the res …
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by …
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
Geppert J, Stinton C, Freeman K, Fraser H, Clarke A, Johnson S, Sutcliffe P, Taylor-Phillips S. Geppert J, et al. Orphanet J Rare Dis. 2017 Sep 11;12(1):154. doi: 10.1186/s13023-017-0696-z. Orphanet J Rare Dis. 2017. PMID: 28893311 Free PMC article. Review.
BACKGROUND: Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. ...
BACKGROUND: Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal wit …
The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations.
van Vliet D, van der Goot E, van Ginkel WG, van Faassen HJR, de Blaauw P, Kema IP, Heiner-Fokkema MR, van der Zee EA, van Spronsen FJ. van Vliet D, et al. Mol Genet Metab. 2022 Jan;135(1):27-34. doi: 10.1016/j.ymgme.2021.11.003. Epub 2021 Dec 14. Mol Genet Metab. 2022. PMID: 34974973
BACKGROUND: Large neutral amino acid (LNAA) treatment has been suggested as alternative to the burdensome severe phenylalanine-restricted diet. ...After ten weeks, brain and plasma samples were collected to measure amino acid profiles and brain …
BACKGROUND: Large neutral amino acid (LNAA) treatment has been suggested as alternative to the burdensome severe phenyl …
64 results