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1.

Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.

Varon, Alberto; Whitt, Zachary; Kalika, Paige M; Potocki, Lorraine; Barbouth, Deborah S; Walz, Katherina.

Am J Med Genet A ; 179(7): 1366-1370, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-31066191

2.

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

El-Hattab, Ayman W; Wang, Julia; Dai, Hongzheng; Almannai, Mohammed; Staufner, Christian; Alfadhel, Majid; Gambello, Michael J; Prasun, Pankaj; Raza, Saleem; Lyons, Hernando J; Afqi, Manal; Saleh, Mohammed A M; Faqeih, Eissa A; Alzaidan, Hamad I; Alshenqiti, Abduljabbar; Flore, Leigh Anne; Hertecant, Jozef; Sacharow, Stephanie; Barbouth, Deborah S; Murayama, Kei; Shah, Amit A; Lin, Henry C; Wong, Lee-Jun C.

Hum Mutat ; 39(4): 461-470, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-29282788

3.

Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy.

Weinreb, Neal J; Barbouth, Deborah S; Lee, Robert E.

Blood Cells Mol Dis ; 68: 211-217, 2018 02.

Artículo en Inglés | MEDLINE | ID: mdl-27816427

4.

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.

Camarena, Vladimir; Williams, Monique M; Morales, Alejo A; Zafeer, Mohammad F; Kilic, Okan V; Kamiar, Ali; Abad, Clemer; Rasmussen, Monica A; Briski, Laurence M; Peart, LéShon; Bademci, Guney; Barbouth, Deborah S; Smithson, Sarah; Wang, Gaofeng; Shehadeh, Lina A; Walz, Katherina; Tekin, Mustafa.

JCI Insight ; 9(5)2024 Feb 01.

Artículo en Inglés | MEDLINE | ID: mdl-38300707

5.

Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.

Corti, Manuela; Byrne, Barry J; Gessler, Dominic J; Thompson, Grace; Norman, Samantha; Lammers, Jenna; Coleman, Kirsten E; Liberati, Cristina; Elder, Melissa E; Escolar, Maria L; Tuna, Ibrahim S; Mesaros, Clementina; Kleiner, Gary I; Barbouth, Deborah S; Gray-Edwards, Heather L; Clement, Nathalie; Cleaver, Brian D; Gao, Guangping.

Mol Ther Methods Clin Dev ; 30: 303-314, 2023 Sep 14.

Artículo en Inglés | MEDLINE | ID: mdl-37601414

6.

Macrocephaly-capillary malformation: a report of three cases and review of the literature.

Gonzalez, Mercedes E; Burk, Cynthia J; Barbouth, Deborah S; Connelly, Elizabeth Alvarez.

Pediatr Dermatol ; 26(3): 342-6, 2009.

Artículo en Inglés | MEDLINE | ID: mdl-19706101

7.

Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis.

Gorla, Sudheer R; Raja, Kishore R; Garg, Ashish; Barbouth, Deborah S; Rusconi, Paolo G.

J Pediatr Genet ; 7(4): 180-184, 2018 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-30430036

8.

Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia.

Swaminathan, Sethuraman; Gorla, Sudheer R; Barbouth, Deborah S.

J Pediatr Genet ; 6(2): 115-117, 2017 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-28497001

9.

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.

Al-Sannaa, Nouriya A; Bay, Luisa; Barbouth, Deborah S; Benhayoun, Youssef; Goizet, Cyril; Guelbert, Norberto; Jones, Simon A; Kyosen, Sandra Obikawa; Martins, Ana Maria; Phornphutkul, Chanika; Reig, Celia; Pleat, Rebecca; Fallet, Shari; Ivanovska Holder, Iva.

Orphanet J Rare Dis ; 10: 131, 2015 Oct 07.

Artículo en Inglés | MEDLINE | ID: mdl-26446585

10.

Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome.

Shpiner, Danielle S; Bardos, Jonah; Barbouth, Deborah S; Moore, Henry P.

Mov Disord Clin Pract ; 6(5): 409-410, 2019 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-33999982

11.

Patient management problem-preferred responses.

Barbouth, Deborah S; Weinreb, Neal J.

Continuum (Minneap Minn) ; 17(2 Neurogenetics): 407-16, 2011 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-22810832

12.

Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air.

Barbouth, Deborah S; Velazquez, Darcy L; Konopka, Stanley; Wilkinson, J James D; Carver, Virginia H; Elsas, Louis J.

Pediatr Res ; 62(6): 720-4, 2007 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-17957157

13.

Patient management problem.

Barbouth, Deborah S; Weinreb, Neal J.

Continuum (Minneap Minn) ; 17(2 Neurogenetics): 402-6, 2011 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-22810831

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