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Quoted phrase not found in phrase index: "Hyperdibasic aminoaciduria type 1"
Page 1
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R, Didi M, Shaw N, Metherell LA, Savage MO, Storr HL. Andrews A, et al. J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4716-e4733. doi: 10.1210/clinem/dgab437. J Clin Endocrinol Metab. 2021. PMID: 34136918 Free PMC article.
The remaining 35/80 (44%) had diagnoses of 3M syndrome (n = 10) (OBSL1 n = 7, CUL7 n = 2, and CCDC8 n = 1), Noonan syndrome (n = 4) (PTPN11 n = 2, SOS1 n = 1, and SOS2 n = 1), Silver-Russell syndrome (n = 2) (loss of methylation on chromosome 11p15 and uniparental disomy for chro …
The remaining 35/80 (44%) had diagnoses of 3M syndrome (n = 10) (OBSL1 n = 7, CUL7 n = 2, and CCDC8 n = 1), Noonan syndrome (n = 4) (PTPN11 …
Glycoprotein-associated amino acid exchangers: broadening the range of transport specificity.
Verrey F, Meier C, Rossier G, Kühn LC. Verrey F, et al. Pflugers Arch. 2000 Aug;440(4):503-12. doi: 10.1007/s004240000274. Pflugers Arch. 2000. PMID: 10958334 Review.
Members of the newly discovered glycoprotein-associated amino acid transporter family (gpaAT-family) share a similar primary structure with >40% identity, a predicted 12-transmembrane segment topology and the requirement for association with a glycoprotein (heavy chain) …
Members of the newly discovered glycoprotein-associated amino acid transporter family (gpaAT-family) share a similar primary structure with …
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S, Häberle J, Jalan AB, Puri RD, Kohli S, Kudalkar K, Rüfenacht V, Gupta D, Maurya D, Verma J, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Orphanet J Rare Dis. 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1. Orphanet J Rare Dis. 2018. PMID: 30285816 Free PMC article.
Deficiencies of arginase, N-acetylglutamate synthase, carbamoyl phosphate synthetase, citrin, and lysinuric protein intolerance were also observed. Molecular genetic analysis revealed two common ASS1 mutations: c.470G > A (p.Arg157His) and c.1168G > A ( …
Deficiencies of arginase, N-acetylglutamate synthase, carbamoyl phosphate synthetase, citrin, and lysinuric protein intoler …
The genetic landscape of the human solute carrier (SLC) transporter superfamily.
Schaller L, Lauschke VM. Schaller L, et al. Hum Genet. 2019 Dec;138(11-12):1359-1377. doi: 10.1007/s00439-019-02081-x. Epub 2019 Nov 2. Hum Genet. 2019. PMID: 31679053 Free PMC article.
Comprehensive computational analyses using 13 partially orthogonal algorithms that predict the functional impact of genetic variations based on sequence information, evolutionary conservation, structural considerations, and functional genomics data revealed that each indiv …
Comprehensive computational analyses using 13 partially orthogonal algorithms that predict the functional impact of genetic variation …