127 related articles for article (PubMed ID: 36825476)
1. A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings.
Yildiz M; Onal Z; Yesil G; Kabil TG; Toksoy G; Poyrazoglu S; Bas F; Durmaz O; Darendeliler F
J Clin Res Pediatr Endocrinol; 2023 Feb; ():. PubMed ID: 36825476
[TBL] [Abstract][Full Text] [Related]
2. Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.
Lafcı NG; Colak FK; Sahin G; Sakar M; Çetinkaya S; Savas-Erdeve S
Hormones (Athens); 2021 Sep; 20(3):581-585. PubMed ID: 33159679
[TBL] [Abstract][Full Text] [Related]
3. Chances of Liver Transplantation in a Patient With Transaldolase Deficiency Complicated by Hepatopulmonary Syndrome.
Fallata E; Alamri AM; Alrabee HA; Alghamdi AA; Alsaearei A
Cureus; 2023 Feb; 15(2):e35150. PubMed ID: 36949991
[TBL] [Abstract][Full Text] [Related]
4. Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
Al-Shamsi AM; Ben-Salem S; Hertecant J; Al-Jasmi F
Eur J Pediatr; 2015 May; 174(5):661-8. PubMed ID: 25388407
[TBL] [Abstract][Full Text] [Related]
5. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
Bayram Y; Gulsuner S; Guran T; Abaci A; Yesil G; Gulsuner HU; Atay Z; Pierce SB; Gambin T; Lee M; Turan S; Bober E; Atik MM; Walsh T; Karaca E; Pehlivan D; Jhangiani SN; Muzny D; Bereket A; Buyukgebiz A; Boerwinkle E; Gibbs RA; King MC; Lupski JR
J Clin Endocrinol Metab; 2015 May; 100(5):E808-14. PubMed ID: 25774885
[TBL] [Abstract][Full Text] [Related]
6. Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
Banne E; Meiner V; Shaag A; Katz-Brull R; Gamliel A; Korman S; Cederboim SH; Duvdevani MP; Frumkin A; Zilkha A; Kapuller V; Arbell D; Cohen E; Eventov-Friedman S
JIMD Rep; 2016; 26():31-6. PubMed ID: 26238251
[TBL] [Abstract][Full Text] [Related]
7. Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.
Leduc CA; Crouch EE; Wilson A; Lefkowitch J; Wamelink MM; Jakobs C; Salomons GS; Sun X; Shen Y; Chung WK
JIMD Rep; 2014; 12():121-7. PubMed ID: 24097415
[TBL] [Abstract][Full Text] [Related]
8. Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report.
Xue J; Han J; Zhao X; Zhen L; Mei S; Hu Z; Li X
Front Genet; 2021; 12():752272. PubMed ID: 35186000
[TBL] [Abstract][Full Text] [Related]
9. A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.
França MM; Lerario AM; Funari MFA; Nishi MY; Narcizo AM; de Mello MP; Guerra-Junior G; Maciel-Guerra AT; Mendonça BB
Sex Dev; 2017; 11(3):137-142. PubMed ID: 28591755
[TBL] [Abstract][Full Text] [Related]
10. Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.
Grammatikopoulos T; Hadzic N; Foskett P; Strautnieks S; Samyn M; Vara R; Dhawan A; Hertecant J; Al Jasmi F; Rahman O; Deheragoda M; Bull LN; Thompson RJ;
Hepatol Commun; 2022 Mar; 6(3):473-479. PubMed ID: 34677006
[TBL] [Abstract][Full Text] [Related]
11. Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.
Lee-Barber J; English TE; Britton JF; Sobreira N; Goldstein J; Valle D; Bjornsson HT
JIMD Rep; 2019; 44():9-15. PubMed ID: 29923087
[TBL] [Abstract][Full Text] [Related]
12. Nephrological abnormalities in patients with transaldolase deficiency.
Loeffen YG; Biebuyck N; Wamelink MM; Jakobs C; Mulder MF; Tylki-Szymańska A; Fung CW; Valayannopoulos V; Bökenkamp A
Nephrol Dial Transplant; 2012 Aug; 27(8):3224-7. PubMed ID: 22510381
[TBL] [Abstract][Full Text] [Related]
13. A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.
Zhou YK; Yang XC; Cao Y; Su H; Liu L; Liang Z; Zheng Y
BMC Med Genet; 2018 Dec; 19(Suppl 1):214. PubMed ID: 30598092
[TBL] [Abstract][Full Text] [Related]
14. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.
Verhoeven NM; Huck JH; Roos B; Struys EA; Salomons GS; Douwes AC; van der Knaap MS; Jakobs C
Am J Hum Genet; 2001 May; 68(5):1086-92. PubMed ID: 11283793
[TBL] [Abstract][Full Text] [Related]
15. An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
de Bruin C; Mericq V; Andrew SF; van Duyvenvoorde HA; Verkaik NS; Losekoot M; Porollo A; Garcia H; Kuang Y; Hanson D; Clayton P; van Gent DC; Wit JM; Hwa V; Dauber A
J Clin Endocrinol Metab; 2015 May; 100(5):E789-98. PubMed ID: 25742519
[TBL] [Abstract][Full Text] [Related]
16. Late diagnosis of a rare multisystemic genetic disorder: Transaldolase deficiency due to homozygous TALDO1 c.345dupA variant.
Dirim AB; Kalayci T; Safak S; Garayeva Guller N; Oto OA; Artan AS; Ozturk S; Yazici H
Nephrology (Carlton); 2024 Jan; 29(1):55-56. PubMed ID: 37740560
[No Abstract] [Full Text] [Related]
17. A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity.
Shehab MA; Mahmood T; Hasanat MA; Fariduddin M; Ahsan N; Hossain MS; Hossain MS; Jahan S
Endocrinol Diabetes Metab Case Rep; 2018 Oct; 2018(1):18-0108. PubMed ID: 30328339
[TBL] [Abstract][Full Text] [Related]
18. Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.
Al-Mayouf SM; AlTassan RS; AlOwain MA
Clin Rheumatol; 2020 Nov; 39(11):3511-3515. PubMed ID: 32506314
[TBL] [Abstract][Full Text] [Related]
19. PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus.
Yang Q; Hua R; Qian J; Yi S; Shen F; Zhang Q; Li M; Yi S; Luo J; Fan X
Front Genet; 2020; 11():198. PubMed ID: 32218803
[TBL] [Abstract][Full Text] [Related]
20. A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.
Verhoeven NM; Wallot M; Huck JH; Dirsch O; Ballauf A; Neudorf U; Salomons GS; van der Knaap MS; Voit T; Jakobs C
J Inherit Metab Dis; 2005; 28(2):169-79. PubMed ID: 15877206
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]