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1999 1
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Page 1
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Anazi S, et al. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19. Mol Psychiatry. 2017. PMID: 27431290
In addition, exome sequencing revealed de novo and recessive variants in 32 genes (MAMDC2, TUBAL3, CPNE6, KLHL24, USP2, PIP5K1A, UBE4A, TP53TG5, ATOH1, C16ORF90, SLC39A14, TRERF1, RGL1, CDH11, SYDE2, HIRA, FEZF2, PROCA1, PIANP, PLK2, QRFPR, AP3B2, NUDT2, UFC1, BTN3A2, TADA1, ARFG …
In addition, exome sequencing revealed de novo and recessive variants in 32 genes (MAMDC2, TUBAL3, CPNE6, KLHL24, USP2, PIP5K1A, UBE4A, TP53 …
Manganese Provision in Parenteral Nutrition: An Update.
Livingstone C. Livingstone C. Nutr Clin Pract. 2018 Jun;33(3):404-418. doi: 10.1177/0884533617702837. Epub 2017 Dec 14. Nutr Clin Pract. 2018. PMID: 28445108 Review.
It usually presents with parkinsonian-like symptoms but may be detected presymptomatically as hypermanganesemia or as increased signal intensity of the basal ganglia upon T1-weighted magnetic resonance imaging. Caution is necessary when providing Mn for patients on long-te …
It usually presents with parkinsonian-like symptoms but may be detected presymptomatically as hypermanganesemia or as increased signa …
Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.
Zaki MS, Issa MY, Elbendary HM, El-Karaksy H, Hosny H, Ghobrial C, El Safty A, El-Hennawy A, Oraby A, Selim L, Abdel-Hamid MS. Zaki MS, et al. Clin Genet. 2018 Apr;93(4):905-912. doi: 10.1111/cge.13184. Epub 2018 Feb 11. Clin Genet. 2018. PMID: 29193034
Biallelic mutations in the SLC30A10 gene cause an inborn error of Mn metabolism characterized by hypermanganesemia, polycythemia, early-onset dystonia, and liver cirrhosis (HMDPC). ...
Biallelic mutations in the SLC30A10 gene cause an inborn error of Mn metabolism characterized by hypermanganesemia, polycythemia, ear …
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
Ward LD, Tu HC, Quenneville CB, Tsour S, Flynn-Carroll AO, Parker MM, Deaton AM, Haslett PAJ, Lotta LA, Verweij N, Ferreira MAR; Regeneron Genetics Center; Geisinger-Regeneron DiscovEHR Collaboration; Baras A, Hinkle G, Nioi P. Ward LD, et al. Nat Commun. 2021 Jul 27;12(1):4571. doi: 10.1038/s41467-021-24563-1. Nat Commun. 2021. PMID: 34315874 Free PMC article.
SLC30A10 excretes manganese from the liver to the bile duct, and rare homozygous loss of function causes the syndrome hypermanganesemia with dystonia-1 (HMNDYT1) which involves cirrhosis. Consistent with hematological symptoms of hypermanganesemia, SLC30A10 Thr95Ile …
SLC30A10 excretes manganese from the liver to the bile duct, and rare homozygous loss of function causes the syndrome hypermanganesemia …
Acquired hepatocerebral degeneration and hepatic encephalopathy: one or two entities?
Malaquias MJ, Pinto CM, Ramos C, Ferreira S, Gandara J, Almeida A, Cavaco S, Miranda HP, Magalhães M. Malaquias MJ, et al. Eur J Neurol. 2020 Dec;27(12):2396-2404. doi: 10.1111/ene.14486. Epub 2020 Sep 9. Eur J Neurol. 2020. PMID: 32810879
The most frequent neurological manifestations were neuropsychiatric (93.4%) and extrapyramidal (84.2%). Only 38% of patients had hypermanganesemia. Compared with the AHD group, the AHD with HE group had more hyperkinetic movement disorders (71.4% vs. 38.5%; P = 0.05), a hi …
The most frequent neurological manifestations were neuropsychiatric (93.4%) and extrapyramidal (84.2%). Only 38% of patients had hyperman …
Hypermanganesemia in long-term intravenous nutrition and chronic liver disease.
Wardle CA, Forbes A, Roberts NB, Jawhari AV, Shenkin A. Wardle CA, et al. JPEN J Parenter Enteral Nutr. 1999 Nov-Dec;23(6):350-5. doi: 10.1177/0148607199023006350. JPEN J Parenter Enteral Nutr. 1999. PMID: 10574484
BACKGROUND: Hypermanganesemia and cholestatic liver disease are both recognized complications of long-term IV nutrition. ...
BACKGROUND: Hypermanganesemia and cholestatic liver disease are both recognized complications of long-term IV nutrition. ...
Profiling of Circulatory Elements Reveals Alteration of Essential and Toxic Trace Metals in Crohn's Disease.
Stojsavljević A, Sokić-Milutinović A, Rovčanin B, Tončev L, Manojlović D. Stojsavljević A, et al. Biol Trace Elem Res. 2022 Jun;200(6):2572-2580. doi: 10.1007/s12011-021-02862-4. Epub 2021 Aug 6. Biol Trace Elem Res. 2022. PMID: 34357515
An identical pattern, with the added inclusion of Cu (also higher in CD patients than in the CG), was obtained for CL samples. However, the most important finding was hypermanganesemia, which indicates that Mn could act as a toxic trace metal in CD. ...
An identical pattern, with the added inclusion of Cu (also higher in CD patients than in the CG), was obtained for CL samples. However, the …
Factors associated to hypermanganesemia in patients receiving home parenteral nutrition.
Reimund JM, Dietemann JL, Warter JM, Baumann R, Duclos B. Reimund JM, et al. Clin Nutr. 2000 Oct;19(5):343-8. doi: 10.1054/clnu.2000.0120. Clin Nutr. 2000. PMID: 11031073
BACKGROUND: Home parenteral nutrition (HPN) patients often present hypermanganesamia. AIM: To examine which factors may be associated to hypermanganesemia in HPN patients. METHODS: Plasma manganese (Mn), liver function tests, C-reactive protein concentrations, erythrocyte …
BACKGROUND: Home parenteral nutrition (HPN) patients often present hypermanganesamia. AIM: To examine which factors may be associated to …
Manganese in human parenteral nutrition: considerations for toxicity and biomonitoring.
Santos D, Batoreu C, Mateus L, Marreilha Dos Santos AP, Aschner M. Santos D, et al. Neurotoxicology. 2014 Jul;43:36-45. doi: 10.1016/j.neuro.2013.10.003. Epub 2013 Nov 1. Neurotoxicology. 2014. PMID: 24184781 Free PMC article.
The iatrogenic risks associated with excessive Mn administration in parenteral nutrition (PN) patients are well documented. Hypermanganesemia and neurotoxicity are associated with the duration of Mn supplementation, Mn dosage, as well as pathological conditions, such as an …
The iatrogenic risks associated with excessive Mn administration in parenteral nutrition (PN) patients are well documented. Hypermanganes …
13 results