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1.

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.

Aldrian, Denise; Waldner, Birgit; Vogel, Georg F; El-Gharbawy, Areeg H; McKiernan, Patrick; Vockley, Jerard; Landau, Yuval E; Al Mutairi, Fuad; Stepien, Karolina M; Kwok, Anne Mei-Kwun; Yildiz, Yilmaz; Honzik, Tomas; Kelifova, Silvie; Ellaway, Carolyn; Lund, Allan M; Mori, Mari; Grünert, Sarah C; Scholl-Bürgi, Sabine; Zöggeler, Thomas; Oberhuber, Rupert; Schneeberger, Stefan; Müller, Thomas; Karall, Daniela.

J Inherit Metab Dis ; 47(2): 220-229, 2024 03.

Article in English | MEDLINE | ID: mdl-38375550

2.

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Koch, Rebecca L; Soler-Alfonso, Claudia; Kiely, Bridget T; Asai, Akihiro; Smith, Ariana L; Bali, Deeksha S; Kang, Peter B; Landstrom, Andrew P; Akman, H Orhan; Burrow, T Andrew; Orthmann-Murphy, Jennifer L; Goldman, Deberah S; Pendyal, Surekha; El-Gharbawy, Areeg H; Austin, Stephanie L; Case, Laura E; Schiffmann, Raphael; Hirano, Michio; Kishnani, Priya S.

Mol Genet Metab ; 138(3): 107525, 2023 03.

Article in English | MEDLINE | ID: mdl-36796138

3.

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

El-Gharbawy, Areeg H; Goldstein, Jennifer L; Millington, David S; Vaisnins, Amie E; Schlune, Andrea; Barshop, Bruce A; Schulze, Andreas; Koeberl, Dwight D; Young, Sarah P.

Mol Genet Metab ; 109(2): 215-7, 2013 Jun.

Article in English | MEDLINE | ID: mdl-23583224

4.

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

El-Gharbawy, Areeg H; Boney, Anne; Young, Sarah P; Kishnani, Priya S.

Mol Genet Metab ; 102(2): 214-5, 2011 Feb.

Article in English | MEDLINE | ID: mdl-21130013

5.

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

El-Gharbawy, Areeg H; Bhat, Gifty; Murillo, Jaime E; Thurberg, Beth L; Kampmann, Christoph; Mengel, Karl-Eugen; Kishnani, Priya S.

Mol Genet Metab ; 103(4): 362-6, 2011 Aug.

Article in English | MEDLINE | ID: mdl-21605996

6.

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

El-Gharbawy, Areeg H; Mackey, Joanne; DeArmey, Stephanie; Westby, Greg; Grinnell, Sherry G; Malovrh, Peggy; Conway, Robert; Kishnani, Priya S.

Mol Genet Metab ; 104(1-2): 118-22, 2011.

Article in English | MEDLINE | ID: mdl-21802969

7.

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

El-Gharbawy, Areeg H; Peeden, Joseph N; Lachman, Ralph S; Graham, John M; Moore, Stephen R; Rimoin, David L.

Am J Med Genet A ; 152A(1): 169-74, 2010 Jan.

Article in English | MEDLINE | ID: mdl-20014132

8.

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

El-Gharbawy, Areeg H; Adler-Wailes, Diane C; Mirch, Margaret C; Theim, Kelly R; Ranzenhofer, Lisa; Tanofsky-Kraff, Marian; Yanovski, Jack A.

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

Article in English | MEDLINE | ID: mdl-16787984

9.

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

El-Gharbawy, Areeg H; Kotchen, Jane Morley; Grim, Clarance E; Kaldunski, Mary; Hoffmann, Raymond G; Pausova, Zdenka; Hamet, Pavel; Kotchen, Theodore A.

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

Article in English | MEDLINE | ID: mdl-12441220

10.

Menorrhagia in patients with type I glycogen storage disease.

Austin, Stephanie L; El-Gharbawy, Areeg H; Kasturi, Vellore G; James, Andra; Kishnani, Priya S.

Obstet Gynecol ; 122(6): 1246-54, 2013 Dec.

Article in English | MEDLINE | ID: mdl-24201678

11.

Hyperinsulinism/Hyperammonemia Syndrome: a synopsis.

El-Gharbawy, Areeg H.

Mol Genet Metab ; 84(2): 101-3, 2005 Feb.

Article in English | MEDLINE | ID: mdl-15773041

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