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Items: 1 to 50 of 87

1.

Extra-muscular manifestations of TK2 deficiency.

El-Hattab AW, Wang J, Wong LJ.

Mol Genet Metab Rep. 2018 Jun 21;16:30. doi: 10.1016/j.ymgmr.2018.06.004. eCollection 2018 Sep. No abstract available.

2.

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
3.

ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease.

Suleiman J, Hamwi N, El-Hattab AW.

Brain Dev. 2018 Jun 11. pii: S0387-7604(18)30239-0. doi: 10.1016/j.braindev.2018.05.017. [Epub ahead of print]

PMID:
29903538
4.

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.

Suleiman J, Al Hashem AM, Tabarki B, Al-Thihli K, Bi W, El-Hattab AW.

Clin Genet. 2018 May 28. doi: 10.1111/cge.13387. [Epub ahead of print]

PMID:
29808498
5.
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.

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.

Wang J, Kim E, Dai H, Stefans V, Vogel H, Al Jasmi F, Schrier Vergano SA, Castro D, Bernes S, Bhambhani V, Long C, El-Hattab AW, Wong LJ.

Mol Genet Metab. 2018 Jun;124(2):124-130. doi: 10.1016/j.ymgme.2018.04.012. Epub 2018 Apr 28.

PMID:
29735374
8.

TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.

Suleiman J, Mundt M, Sampath S, El-Hattab AW.

Clin Genet. 2018 Jul;94(1):170-173. doi: 10.1111/cge.13258. Epub 2018 May 10.

PMID:
29633245
9.

Mitochondrial DNA Maintenance Defects Overview.

El-Hattab AW, Craigen WJ, Wong LJC, 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.
2018 Mar 8.

10.

Approach to Inborn Errors of Metabolism in Pediatrics.

El-Hattab AW, Sutton VR.

Pediatr Clin North Am. 2018 Apr;65(2):xix-xx. doi: 10.1016/j.pcl.2018.01.001. No abstract available.

PMID:
29502921
11.

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
12.

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
13.

Multiple sclerosis or "inflammatory CADASIL?": Case Report and review of the literature.

Schiess N, Huether K, Szolics M, Agarwal G, El-Hattab AW, Sathe S.

Clin Neurol Neurosurg. 2018 Feb 8. pii: S0303-8467(18)30041-6. doi: 10.1016/j.clineuro.2018.01.035. [Epub ahead of print]

PMID:
29449082
14.

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS.

Hum Genet. 2018 Jan;137(1):105-109. doi: 10.1007/s00439-017-1859-7.

PMID:
29288388
15.

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
16.

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.

Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW.

Mol Genet Metab. 2018 Mar;123(3):309-316. doi: 10.1016/j.ymgme.2017.12.009. Epub 2017 Dec 12.

PMID:
29269105
17.

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.

Al Mutairi F, Alfadhel M, Nashabat M, El-Hattab AW, Ben-Omran T, Hertecant J, Eyaid W, Ali R, Alasmari A, Kara M, Al-Twaijri W, Filimban R, Alshenqiti A, Al-Owain M, Faqeih E, Alkuraya FS.

Pediatr Neurol. 2018 Jan;78:35-40. doi: 10.1016/j.pediatrneurol.2017.09.002. Epub 2017 Oct 5.

PMID:
29239743
18.

Bovine arch anatomy influences recoarctation rates in the era of the extended end-to-end anastomosis.

Turek JW, Conway BD, Cavanaugh NB, Meyer AM, Aldoss O, Reinking BE, El-Hattab A, Rossi NP.

J Thorac Cardiovasc Surg. 2018 Mar;155(3):1178-1183. doi: 10.1016/j.jtcvs.2017.10.055. Epub 2017 Oct 27.

PMID:
29198787
19.

Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities.

Al Dhaibani MA, El-Hattab AW, Holroyd KB, Orthmann-Murphy J, Larson VA, Siddiqui KA, Szolics M, Schiess N.

J Neurogenet. 2018 Mar;32(1):1-5. doi: 10.1080/01677063.2017.1404057. Epub 2017 Nov 30.

PMID:
29191078
20.

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes.

Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LC.

PLoS One. 2017 Nov 20;12(11):e0188610. doi: 10.1371/journal.pone.0188610. eCollection 2017.

21.

Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans.

Al Harbi MS, El-Hattab AW.

Case Rep Dermatol Med. 2017;2017:8915608. doi: 10.1155/2017/8915608. Epub 2017 Sep 26.

22.

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.

Wessel K, Suleiman J, Khalaf TE, Kishore S, Rolfs A, El-Hattab AW.

BMC Med Genet. 2017 Oct 25;18(1):119. doi: 10.1186/s12881-017-0479-3.

23.
24.

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.

PMID:
28943110
25.

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
26.

Expanding the genetic heterogeneity of intellectual disability.

Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS.

Hum Genet. 2017 Nov;136(11-12):1419-1429. doi: 10.1007/s00439-017-1843-2. Epub 2017 Sep 22. Erratum in: Hum Genet. 2017 Dec 29;:.

PMID:
28940097
27.

The utility of arginine-citrulline stable isotope tracer infusion technique in the assessment of nitric oxide production in MELAS syndrome.

El-Hattab AW, Jahoor F.

Int J Cardiol. 2018 Mar 1;254:282. doi: 10.1016/j.ijcard.2017.06.001. Epub 2017 Aug 23. No abstract available.

PMID:
28843720
28.

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.

29.

Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia.

Almusafri F, Elamin HE, Khalaf TE, Ali A, Ben-Omran T, El-Hattab AW.

Blood Cells Mol Dis. 2017 Jun;65:73-77. doi: 10.1016/j.bcmd.2017.05.011. Epub 2017 May 24. Review.

PMID:
28571779
30.

Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4.

Schiess N, Zee DS, Siddiqui KA, Szolics M, El-Hattab AW.

J Neurogenet. 2017 Mar - Jun;31(1-2):23-25. doi: 10.1080/01677063.2017.1322079.

PMID:
28552035
31.
32.

SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria.

El-Hattab AW, 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.
2009 May 26 [updated 2017 May 18].

33.

WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.

Suleiman J, Allingham-Hawkins D, Hashem M, Shamseldin HE, Alkuraya FS, El-Hattab AW.

Clin Genet. 2018 Feb;93(2):360-364. doi: 10.1111/cge.13054. Epub 2017 Sep 7.

PMID:
28503735
34.

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.

35.

SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria.

El-Hattab AW, 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.
2017 Mar 30.

36.

Mitochondrial DNA maintenance defects.

El-Hattab AW, Craigen WJ, Scaglia F.

Biochim Biophys Acta. 2017 Jun;1863(6):1539-1555. doi: 10.1016/j.bbadis.2017.02.017. Epub 2017 Feb 16. Review.

37.

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.

Benke PJ, Hidalgo RJ, Braffman BH, Jans J, Gassen KLIV, Sunbul R, El-Hattab AW.

J Child Neurol. 2017 May;32(6):543-549. doi: 10.1177/0883073817690094. Epub 2017 Jan 31.

PMID:
28135894
38.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K.

Am J Hum Genet. 2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22.

39.

Deoxyguanosine Kinase Deficiency.

El-Hattab AW, Scaglia F, Wong LJ.

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.
2009 Jun 18 [updated 2016 Dec 22].

40.

Letter to the Editor: "Unaltered L-arginine/NO pathway in a MELAS patient: Is mitochondrial NO synthase involved in the MELAS syndrome?"

El-Hattab AW.

Int J Cardiol. 2017 Feb 15;229:28. doi: 10.1016/j.ijcard.2016.12.001. Epub 2016 Dec 7. No abstract available.

PMID:
27986282
41.

Systemic Primary Carnitine Deficiency.

El-Hattab AW.

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 Mar 15 [updated 2016 Nov 3].

42.

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ.

Clin Genet. 2017 Apr;91(4):634-639. doi: 10.1111/cge.12894. Epub 2017 Jan 5.

PMID:
27743463
43.

Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.

Alabdullatif MA, Al Dhaibani MA, Khassawneh MY, El-Hattab AW.

Clin Genet. 2017 Apr;91(4):616-622. doi: 10.1111/cge.12872. Epub 2016 Oct 11.

PMID:
27717089
44.

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.

Al Kaabi EH, El-Hattab AW.

Mol Genet Metab Rep. 2016 Aug 17;8:94-8. doi: 10.1016/j.ymgmr.2016.08.004. eCollection 2016 Sep.

45.

Mitochondrial Cardiomyopathies.

El-Hattab AW, Scaglia F.

Front Cardiovasc Med. 2016 Jul 25;3:25. doi: 10.3389/fcvm.2016.00025. eCollection 2016. Review.

46.

The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients.

Shaheen R, Al-Salam Z, El-Hattab AW, Alkuraya FS.

Am J Med Genet A. 2016 Dec;170(12):3222-3226. doi: 10.1002/ajmg.a.37877. Epub 2016 Aug 2. Review.

PMID:
27480277
47.

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR.

BMC Med Genomics. 2016 Jul 19;9(1):42. doi: 10.1186/s12920-016-0208-3.

48.

Serine biosynthesis and transport defects.

El-Hattab AW.

Mol Genet Metab. 2016 Jul;118(3):153-9. doi: 10.1016/j.ymgme.2016.04.010. Epub 2016 Apr 22. Review.

PMID:
27161889
49.

Mitochondrial cytopathies.

El-Hattab AW, Scaglia F.

Cell Calcium. 2016 Sep;60(3):199-206. doi: 10.1016/j.ceca.2016.03.003. Epub 2016 Mar 4. Review.

PMID:
26996063
50.

Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated.

El-Hattab AW, Schaaf CP, Cheung SW.

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.
2016 Mar 10.

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