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732 posters,
2 sessions,
11 topics,
3542 authors,
923 institutions
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ACMG Annual Clinical Genetics Meeting 2017
March 21-25, 2017, Phoenix Convention Center Phoenix, Arizona
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53
Clinical Outcomes in Very Long Chain Fatty Acyl-CoA Dehydrogenase Deficiency, Isovaleric Acidemia, and 3-methylcrotonyl-CoA Carboxylase Deficiency Diagnosed by Newborn Screen
Amanda Barone
,
Joel Charrow
Ann and Robert H. Lurie Children’s Hospital of Chicago
Poster Presenter:
Amanda Barone
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The Poster has not been submitted by the Author.
54
Genotype-phenotype correlation in subjects with cobalamin C deficiency
Mohammed Almannai
,
Fernando Scaglia
,
William Craigen
,
V. Reid Sutton
,
Brett Graham
,
Brendan Lee
,
Lindsay Burrage
,
Ronit Marom
Department of Molecular and Human Genetics, Baylor College of Medicine
,
Baylor College of Medicine
Poster Presenter:
Mohammed Almannai
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55
Cobalamin C Disease in the Arizona Population
Kimberly Kripps
,
Kara Woolgar
,
Philip James
,
Kyrieckos Aleck
Phoenix Children's Hospital and Maricopa Medical Center Pediatric Residency Program
,
Division of Genetics and Metabolism, Phoenix Children’s Hospital
,
Phoenix Children's Hospital
Poster Presenter:
Kimberly Kripps
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56
Fibroblast growth factor 21 levels are elevated in patients with inborn errors of metabolism
Brian Kirmse
,
Kimberly Chapman
,
Kristina Cusmano-Ozog
,
Omar Ayyub
,
Juan Cabrera-Luque
,
Marshall Summar
Children's National Health System
Poster Presenter:
Brian Kirmse
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4
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57
Placental metabolomics in HIV-infected and uninfected women reveal differences in multiple pathways of intermediary energy metabolism
Huda Al-Kouatly
,
Brian Kirmse
,
Rachel Scott
,
Gary Cunningham
,
Natella Rakhmanina
Poster Presenter:
Huda Al-Kouatly
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4
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58
Novel mutation in AP1S1 causing MEDNIK and lack of improvement of hepatopathy with zinc chelation.
Bryce Comstock
,
Carlos Ferreira
,
Natalie Hauser
Children's National Health System
Poster Presenter:
Bryce Comstock
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3.7
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59
Prominant Orotate Elevation in a Child with Atypical Clinical Presentation of Ornithine Transcarbamylase Deficiency
Keren Machol
,
Sarah Elsea
,
William Wilson
Department of Molecular and Human Genetics, Baylor Collage of Medicine
,
Baylor College of Medicine
,
Division of Pediatric Genetics, University of Virginia school of Medicine
Poster Presenter:
Keren Machol
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2.3
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3
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60
Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) deficiency.
Mohammed Almuqbil
,
Phillip Pearl
,
Savita Attri
,
Pratibha Singhi
,
Natrujee Wiwattanadittaku
,
Jyotindra Goswami
,
Naveen Sankhyan
,
Gajja Salomons
,
Jean-Baptiste Roullett
,
Ryan Hodgeman
,
K. Gibson
Poster Presenter:
Mohammed Almuqbil
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61
Late-onset Riboflavin Transporter Deficiency: End of a Diagnostic Odyssey
Jaime Vengoechea
,
Rossana Sánchez
,
Brianna Pruniski
Emory University
Poster Presenter:
Jaime Vengoechea
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