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Items: 22

1.

MELAS.

El-Hattab AW, Almannai M, Scaglia F.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Feb 27 [updated 2018 Nov 29].

2.

Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases.

El-Hattab AW, Suleiman J, Almannai M, Scaglia F.

Mol Genet Metab. 2018 Dec;125(4):315-321. doi: 10.1016/j.ymgme.2018.10.003. Epub 2018 Oct 16. Review.

PMID:
30361041
3.

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.

Almannai M, Wang J, Dai H, El-Hattab AW, Faqeih EA, Saleh MA, Al Asmari A, Alwadei AH, Aljadhai YI, AlHashem A, Tabarki B, Lines MA, Grange DK, Benini R, Alsaman AS, Mahmoud A, Katsonis P, Lichtarge O, Wong LC.

Mol Genet Metab. 2018 Nov;125(3):281-291. doi: 10.1016/j.ymgme.2018.07.014. Epub 2018 Jul 29.

PMID:
30177229
4.

Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review.

Mullikin D, Pillai N, Sanchez R, O'Donnell-Luria AH, Kritzer A, Tal L, Almannai M, Berry GT, Gambello MJ, Li H, Graham B, Srivaths L, Sutton VR, Grimes A.

J Pediatr. 2018 Nov;202:315-319.e2. doi: 10.1016/j.jpeds.2018.06.054. Epub 2018 Jul 26.

PMID:
30057141
5.

Mitochondrial DNA replication: clinical syndromes.

Almannai M, El-Hattab AW, Scaglia F.

Essays Biochem. 2018 Jul 20;62(3):297-308. doi: 10.1042/EBC20170101. Print 2018 Jul 20. Review.

PMID:
29950321
6.

MPV17-Related Mitochondrial DNA Maintenance Defect.

El-Hattab AW, Wang J, Dai H, Almannai M, Scaglia F, Craigen WJ, Wong LJC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 May 17 [updated 2018 May 17].

7.

Newborn Screening: History, Current Status, and Future Directions.

El-Hattab AW, Almannai M, Sutton VR.

Pediatr Clin North Am. 2018 Apr;65(2):389-405. doi: 10.1016/j.pcl.2017.11.013. Epub 2017 Dec 28. Review.

PMID:
29502920
8.

Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders.

Almannai M, El-Hattab AW.

Pediatr Clin North Am. 2018 Apr;65(2):279-299. doi: 10.1016/j.pcl.2017.11.007. Epub 2017 Dec 28. Review.

PMID:
29502914
9.

Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy.

Faqeih EA, Almannai M, Saleh MM, AlWadei AH, Samman MM, Alkuraya FS.

Clin Genet. 2018 May;93(5):1081-1086. doi: 10.1111/cge.13227. Epub 2018 Mar 15.

PMID:
29406573
10.

Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.

Almannai M, Alasmari A, Alqasmi A, Faqeih E, Al Mutairi F, Alotaibi M, Samman MM, Eyaid W, Aljadhai YI, Shamseldin HE, Craigen W, Alkuraya FS.

Clin Genet. 2018 May;93(5):1097-1102. doi: 10.1111/cge.13210. Epub 2018 Mar 25.

PMID:
29327420
11.

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin HC, Wong LC.

Hum Mutat. 2018 Apr;39(4):461-470. doi: 10.1002/humu.23387. Epub 2018 Jan 13.

PMID:
29282788
12.

Therapies for mitochondrial diseases and current clinical trials.

El-Hattab AW, Zarante AM, Almannai M, Scaglia F.

Mol Genet Metab. 2017 Nov;122(3):1-9. doi: 10.1016/j.ymgme.2017.09.009. Epub 2017 Sep 18. Review.

13.

Molecular and clinical spectra of FBXL4 deficiency.

El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC.

Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Review.

PMID:
28940506
14.

Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.

Jiang Y, Almannai M, Sutton VR, Sun Q, Elsea SH.

Mol Genet Metab. 2017 Nov;122(3):39-45. doi: 10.1016/j.ymgme.2017.08.011. Epub 2017 Aug 31.

PMID:
28888854
15.

Arginine and citrulline for the treatment of MELAS syndrome.

El-Hattab AW, Almannai M, Scaglia F.

J Inborn Errors Metab Screen. 2017 Jan;5. doi: 10.1177/2326409817697399. Epub 2017 Mar 24.

16.

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Almannai M, Marom R, Divin K, Scaglia F, Sutton VR, Craigen WJ, Lee B, Burrage LC, Graham BH.

Mol Genet Metab. 2017 Sep;122(1-2):60-66. doi: 10.1016/j.ymgme.2017.06.011. Epub 2017 Jun 29.

17.

FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome.

Almannai M, Dai H, El-Hattab AW, Wong LJC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2017 Apr 6.

18.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CTR, Stegmann APA, Robak L, Scaglia F, Nguyen TTM, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJG, Baskin B, Ruivenkamp C, Xia F, Bi W; DDD Study; CAUSES Study, Cho MT, Potjer TP, Santen GWE, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM, Yang XJ.

Am J Hum Genet. 2017 Jan 5;100(1):91-104. doi: 10.1016/j.ajhg.2016.11.011. Epub 2016 Dec 8.

19.

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC.

Am J Med Genet A. 2017 Mar;173(3):733-739. doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26.

20.

Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.

Almannai M, Marom R, Sutton VR.

Curr Opin Pediatr. 2016 Dec;28(6):694-699. Review.

PMID:
27552071
21.

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.

El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Almannai M, Craigen WJ, Jahoor F, Scaglia F.

Mol Genet Metab. 2016 Apr;117(4):407-12. doi: 10.1016/j.ymgme.2016.01.010. Epub 2016 Jan 27.

22.

Successful treatment of rhino-orbital mucormycosis with posaconazole and hyperbaric oxygen therapy.

Almannai M, Imran H, Estrada B, Siddiqui AH.

Pediatr Hematol Oncol. 2013 Apr;30(3):184-6. doi: 10.3109/08880018.2013.770587. Epub 2013 Feb 27.

PMID:
23444832

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