143 related articles for article (PubMed ID: 33789861)
1. Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
Ediger K; Hicks A; Siriwardena K; Joynt C
BMJ Case Rep; 2021 Mar; 14(3):. PubMed ID: 33789861
[TBL] [Abstract][Full Text] [Related]
2. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
Erez A; Nagamani SC; Lee B
Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):45-53. PubMed ID: 21312326
[TBL] [Abstract][Full Text] [Related]
3. Argininosuccinate lyase deficiency.
Nagamani SC; Erez A; Lee B
Genet Med; 2012 May; 14(5):501-7. PubMed ID: 22241104
[TBL] [Abstract][Full Text] [Related]
4. Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.
Hu L; Pandey AV; Eggimann S; Rüfenacht V; Möslinger D; Nuoffer JM; Häberle J
J Biol Chem; 2013 Nov; 288(48):34599-611. PubMed ID: 24136197
[TBL] [Abstract][Full Text] [Related]
5. Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1.
Barnett CP; Mencel JJ; Gecz J; Waters W; Kirwin SM; Vinette KM; Uppill M; Nicholl J
Am J Med Genet A; 2012 Dec; 158A(12):3168-73. PubMed ID: 23169673
[TBL] [Abstract][Full Text] [Related]
6. To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening.
Heng TYJ; Ow JR; Koh AL; Lim JSC; Ong CBK; Goh JCY; Lim JY; Chiou FK; Jamuar SS
Clin Dysmorphol; 2024 Jan; 33(1):43-49. PubMed ID: 37865865
[TBL] [Abstract][Full Text] [Related]
7. High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations).
LeMoine BD; Browne LP; Liptzin DR; Deterding RR; Galambos C; Weinman JP
Pediatr Radiol; 2019 Jun; 49(7):869-875. PubMed ID: 30927038
[TBL] [Abstract][Full Text] [Related]
8. [Genetic diagnosis of a Chinese pedigree affected with neonatal argininosuccinic aciduria].
Li W; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):926-929. PubMed ID: 31515792
[TBL] [Abstract][Full Text] [Related]
9. Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary Dysfunction.
Prasad R; Nicholas AK; Schoenmakers N; Barton J
Horm Res Paediatr; 2019; 92(5):340-344. PubMed ID: 31707387
[TBL] [Abstract][Full Text] [Related]
10. NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.
Shetty VB; Kiraly-Borri C; Lamont P; Bikker H; Choong CS
J Pediatr Endocrinol Metab; 2014 Mar; 27(3-4):373-8. PubMed ID: 24129101
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation of NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: part of the spectrum of brain-thyroid-lung syndrome.
Williamson S; Kirkpatrick M; Greene S; Goudie D
J Child Neurol; 2014 May; 29(5):666-9. PubMed ID: 24453141
[TBL] [Abstract][Full Text] [Related]
12. NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
Wen W; Yin D; Huang F; Guo M; Tian T; Zhu H; Yang Y
BMC Med Genet; 2016 Feb; 17():9. PubMed ID: 26843370
[TBL] [Abstract][Full Text] [Related]
13. Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report.
Gu R; Ye G; Zhou Y; Jiang Z
Medicine (Baltimore); 2020 Mar; 99(12):e19650. PubMed ID: 32195974
[TBL] [Abstract][Full Text] [Related]
14. A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1.
Kharbanda M; Hermanns P; Jones J; Pohlenz J; Horrocks I; Donaldson M
Eur J Med Genet; 2017 May; 60(5):257-260. PubMed ID: 28286255
[TBL] [Abstract][Full Text] [Related]
15. Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
Stadler S; Gempel K; Bieger I; Pontz BF; Gerbitz KD; Bauer MF; Hofmann S
J Inherit Metab Dis; 2001 Jun; 24(3):370-8. PubMed ID: 11486903
[TBL] [Abstract][Full Text] [Related]
16. [Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1].
Villamil-Osorio M; Yunis LK; Quintero L; Restrepo-Gualteros S; Yunis JJ; Jaramillo L; Agudelo BI; Ladino Y
Andes Pediatr; 2021 Dec; 92(6):930-936. PubMed ID: 35506806
[TBL] [Abstract][Full Text] [Related]
17. The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.
Villafuerte B; Natera-de-Benito D; González A; Mori MA; Palomares M; Nevado J; García-Miñaur S; Lapunzina P; González-Granado LI; Allende LM; Moreno JC
Eur J Med Genet; 2018 Jul; 61(7):393-398. PubMed ID: 29477862
[TBL] [Abstract][Full Text] [Related]
18. Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
Hu L; Pandey AV; Balmer C; Eggimann S; Rüfenacht V; Nuoffer JM; Häberle J
J Inherit Metab Dis; 2015 Sep; 38(5):815-27. PubMed ID: 25778938
[TBL] [Abstract][Full Text] [Related]
19. [Brain-lung-thyroid syndrome report of two cases].
Chen JH; Zheng YJ
Zhonghua Er Ke Za Zhi; 2020 Oct; 58(10):847-849. PubMed ID: 32987468
[TBL] [Abstract][Full Text] [Related]
20. Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.
Diez-Fernandez C; Hertig D; Loup M; Diserens G; Henry H; Vermathen P; Nuoffer JM; Häberle J; Braissant O
J Inherit Metab Dis; 2019 Nov; 42(6):1077-1087. PubMed ID: 30907007
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]