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Quoted phrase not found in phrase index: "Neutral hyperaminoaciduria"
Page 1
Overview of symptoms and treatment for lysinuric protein intolerance.
Noguchi A, Takahashi T. Noguchi A, et al. J Hum Genet. 2019 Sep;64(9):849-858. doi: 10.1038/s10038-019-0620-6. Epub 2019 Jun 18. J Hum Genet. 2019. PMID: 31213652 Review.
Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the functional abnormality of y(+)L amino acid transporter-1 (y(+) LAT-1). ...Furthermore, although therapeutic interventions can prevent …
Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the functio …
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 …
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.
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.
Ehrenberg M, Bagdonite-Bejarano L, Fulton AB, Orenstein N, Yahalom C. Ehrenberg M, et al. Ophthalmic Genet. 2021 Jun;42(3):243-251. doi: 10.1080/13816810.2021.1888128. Epub 2021 Feb 17. Ophthalmic Genet. 2021. PMID: 33594928
Reaching an accurate genetic diagnosis is essential for both the patients and their family members. This enables predicting disease prognosis, tailoring correct follow-up, and providing genetic counseling and family planning to affected families....
Reaching an accurate genetic diagnosis is essential for both the patients and their family members. This enables predicting disease …
The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.
Han J, Lu S, Song X, Jı G, Xıe Y, Wu H. Han J, et al. Turk J Med Sci. 2022 Aug;52(4):1256-1265. doi: 10.55730/1300-0144.5431. Epub 2022 Aug 10. Turk J Med Sci. 2022. PMID: 36326420 Free PMC article.
After therapy, 18 patients were associated with a favorable prognosis, and two patients were ineffective with the treatment of neutral lipid storage myopathy (NLSDM) caused by PNPLA2 mutation. ...
After therapy, 18 patients were associated with a favorable prognosis, and two patients were ineffective with the treatment of neu …
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder.
Ogier de Baulny H, Schiff M, Dionisi-Vici C. Ogier de Baulny H, et al. Mol Genet Metab. 2012 May;106(1):12-7. doi: 10.1016/j.ymgme.2012.02.010. Epub 2012 Feb 17. Mol Genet Metab. 2012. PMID: 22402328 Review.
Lysinuric protein intolerance (LPI) is an inherited defect of cationic amino acid (lysine, arginine and ornithine) transport at the basolateral membrane of intestinal and renal tubular cells caused by mutations in SLC7A7 encoding the y(+)LAT1 protein. LPI has long b …
Lysinuric protein intolerance (LPI) is an inherited defect of cationic amino acid (lysine, arginine and ornithine) transport a …
Phenylketonuria: brain phenylalanine concentrations relate inversely to cerebral protein synthesis.
de Groot MJ, Sijens PE, Reijngoud DJ, Paans AM, van Spronsen FJ. de Groot MJ, et al. J Cereb Blood Flow Metab. 2015 Feb;35(2):200-5. doi: 10.1038/jcbfm.2014.183. Epub 2014 Oct 29. J Cereb Blood Flow Metab. 2015. PMID: 25352046 Free PMC article. Clinical Trial.
In phenylketonuria, elevated plasma phenylalanine concentrations may disturb blood-to-brain large neutral amino acid (LNAA) transport and cerebral protein synthesis (CPS). ...Since brain phenylalanine concentrations in these VOIs highly correlated with each o …
In phenylketonuria, elevated plasma phenylalanine concentrations may disturb blood-to-brain large neutral amino acid (L …
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Camp KM, et al. Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6. Mol Genet Metab. 2014. PMID: 24667081
Regarding the use of sapropterin in PKU, there are significant gaps in predicting response to treatment; at least half of those with PKU will have either minimal or no response. ...The process that preceded the PKU State-of-the-Science Conference, the conference itself, an …
Regarding the use of sapropterin in PKU, there are significant gaps in predicting response to treatment; at least half of those with …
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR. Power B, et al. Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7. Orphanet J Rare Dis. 2019. PMID: 30791930 Free PMC article.
BACKGROUND: Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and eas …
BACKGROUND: Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis …
35 results