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Items: 12

1.

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.

Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, Deward S, Lasarev MR, Pollaro J, DeLany JP, Burchill LJ, Goodpaster B, Shoemaker J, Matern D, Harding CO, Vockley J.

J Inherit Metab Dis. 2017 Nov;40(6):831-843. doi: 10.1007/s10545-017-0085-8. Epub 2017 Sep 4.

2.

Menorrhagia in patients with type I glycogen storage disease.

Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS.

Obstet Gynecol. 2013 Dec;122(6):1246-54. doi: 10.1097/01.AOG.0000435451.86108.82.

PMID:
24201678
3.

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP.

Mol Genet Metab. 2013 Jun;109(2):215-7. doi: 10.1016/j.ymgme.2013.03.003. Epub 2013 Mar 16.

PMID:
23583224
4.

An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions.

El-Gharbawy AH, Mackey J, DeArmey S, Westby G, Grinnell SG, Malovrh P, Conway R, Kishnani PS.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):118-22. doi: 10.1016/j.ymgme.2011.07.004. Epub 2011 Jul 13.

5.

Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.

El-Gharbawy AH, Bhat G, Murillo JE, Thurberg BL, Kampmann C, Mengel KE, Kishnani PS.

Mol Genet Metab. 2011 Aug;103(4):362-6. doi: 10.1016/j.ymgme.2011.04.009. Epub 2011 May 5.

PMID:
21605996
6.

Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.

El-Gharbawy AH, Boney A, Young SP, Kishnani PS.

Mol Genet Metab. 2011 Feb;102(2):214-5. doi: 10.1016/j.ymgme.2010.11.001. Epub 2010 Nov 9.

PMID:
21130013
7.

Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.

El-Gharbawy AH, Peeden JN Jr, Lachman RS, Graham JM Jr, Moore SR, Rimoin DL.

Am J Med Genet A. 2010 Jan;152A(1):169-74. doi: 10.1002/ajmg.a.33146.

8.

Serum brain-derived neurotrophic factor concentrations in lean and overweight children and adolescents.

El-Gharbawy AH, Adler-Wailes DC, Mirch MC, Theim KR, Ranzenhofer L, Tanofsky-Kraff M, Yanovski JA.

J Clin Endocrinol Metab. 2006 Sep;91(9):3548-52. Epub 2006 Jun 20.

9.

Hyperinsulinism/Hyperammonemia Syndrome: a synopsis.

El-Gharbawy AH.

Mol Genet Metab. 2005 Feb;84(2):101-3. No abstract available.

PMID:
15773041
10.

Gender-specific correlates of leptin with hypertension-related phenotypes in African Americans.

El-Gharbawy AH, Kotchen JM, Grim CE, Kaldunski M, Hoffmann RG, Pausova Z, Hamet P, Kotchen TA.

Am J Hypertens. 2002 Nov;15(11):989-93.

PMID:
12441220
11.

Predictors of target organ damage in hypertensive blacks and whites.

El-Gharbawy AH, Kotchen JM, Grim CE, Kaldunski M, Hoffmann RG, Pausova Z, Gaudet D, Gossard F, Hamet P, Kotchen TA.

Hypertension. 2001 Oct;38(4):761-6.

PMID:
11641283
12.

Arterial pressure, left ventricular mass, and aldosterone in essential hypertension.

El-Gharbawy AH, Nadig VS, Kotchen JM, Grim CE, Sagar KB, Kaldunski M, Hamet P, Pausova Z, Gaudet D, Gossard F, Kotchen TA.

Hypertension. 2001 Mar;37(3):845-50.

PMID:
11244006

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