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SOCIETY FOR INHERITED METABOLIC DISORDERS Annual Meeting: March 9 - 12, 2014 Asilomar Conference Center, Pacific Grove, California |
Posters will be displayed on 3'10" x 3'10" (46 inches x 46
inches, 116.8 cm x 116.8 cm) boards.
Posters may be mounted starting on Monday 10 March, 2014 at 08:00, and will remain
posted throughout the meeting.
Posters must be removed after the coffee break on Wenesday. 12 March, 2014.
| Board # | First Author | Title of Abstract |
| 1 | SIMD BUSINESS | |
| 2 | SIMD BUSINESS | |
| 3 | Prasun, Pankaj | COMBINED D-2 AND L-2 HYDROXYGLUTARIC ACIDURIA PRESENTING WITH FACIAL DYSMORPHISM AND MULTIPLE MALFORMATIONS |
| 4 | Lam, Christina | Two novel compound heterozygous mutations in OPA3 in two siblings with 3-methylglutaconic aciduria Type III |
| 5 | Ghaloul-Gonzalez, Lina | HYPERAMMONIEMIC ENCEPHALOPATY AND OROTIC ACIDURIA MIMICKING ORNITHINE TRANSCARBAMOYLASE (OTC) DEFICIENCY, A CONSISTENT PHENOTYPE IN A SUBSET OF PATIENTS WITH HEPATOCELLULAR CARCINOMA. |
| 6 | Brown, Donna | MATERNAL METHYLMALONIC ACIDEMIA (MMA) IN PREGNANCY |
| 7 | Stiles, A.R. | BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS IN THE THIRD PATIENT REPORTED WITH 2-KETOADIPIC ACIDURIA CAUSED BY MUTATIONS IN DHTKD1 |
| 8 | Deeb, Kristin K. | SOMATIC MOSAICISM FOR A NOVEL PDHA1 MUTATION IN A MALE WITH SEVERE PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY: CASE REPORT AND LITERATURE REVIEW |
| 9 | Celeste, Frank | GNE GENE MUTATIONS ASSOCIATED WITH GNE MYOPATHY |
| 10 | Bellesheim, K.R. | ATYPICAL WORKING MEMORY-RELATED NEURAL ACTIVITY IN INDIVIDUALS WITH PHENYLKETONURIA |
| 11 | Mohamed, Miski | WHOLE EXOME SEQUENCING IN METABOLIC CUTIS LAXA |
| 12 | Ayyub, Omar TRAVEL AWARD WINNER (See abstract under Travel awards) |
RAPID POINT OF CARE DETECTION OF HYPERAMMONEMIA IN WHOLE BLOOD |
| 13 | Gangoiti, J.A. | A COMPOSITE METHOD WITH THE POTENTIAL OF UNIVERSAL BIOCHEMICAL GENETICS ANALYSIS BY USING A SINGLE-COLUMN |
| 14 | Atwal, P.S. | Biomarkers For Evidence of Mitochondrial Dysfunction In Cobalamin C Disease |
| 15 | Christ, Shawn E. | MORPHOMETRIC ANALYSIS OF GRAY MATTER INTEGRITY IN INDIVIDUALS WITH PKU |
| 16 | Wilnari, Yael | PRENATAL TREATMENT OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
| 17 | Belmont-Martinez, Leticia | ORAL MANIFESTATIONS IN PATIENTS WITH CYSTINOSIS |
| 18 | Burgard, Peter | BEHAVIORAL AND EMOTIONAL PROBLEMS AND QUALITY OF LIFE IN PATIENTS WITH ORGANIC ACIDEMIAS AND UREA CYCLE DISORDERS – RESULTS FROM THE EIMD |
| 19 | Yasuda, Makiko | Acute Hepatic Porphyrias: Inhibition of Hepatic ALAS1 with an RNAi Therapeutic Provides Effective Prevention and Treatment of Induced Acute Attacks in Acute Intermittent Porphyria Mice |
| 20 | Boles, Richard G. | TIRED, HURTING, AND QUEASY: MUTATIONS IN THE MITOCHONDRIAL CHAPERONE TRAP1 ARE ASSOCIATED WITH COMMON FUNCTIONAL SYMPTOMATOLOGY AND ARE A NOVEL CAUSE OF POLYGENIC MITOCHONDRIAL DISEASE |
| 21 | MacLeod, Erin | PREDICTING NITROGEN BALANCE DURING ACUTE METABOLIC DECOMPENSATION USING A COMPUTATIONAL MODEL OF METABOLISM |
| 22 | MacLeod, Erin | RESTING METABOLIC RATE IN INDIVIDUALS WITH INBORN ERRORS OF METABOLISM DURING ILLNESS MAY NOT BE INCREASED COMPARED TO THEIR HEALTHY REQUIREMENTS. |
| 23 | Ullal, Anirudh J. | DRIED BLOOD SPOT ENZYMATIC ASSAYS FOR MPS TYPE IVA (MORQUIO) AND TYPE VI (MAROTEAUX-LAMY) SYNDROMES |
| 24 | Levy, Paul A. | THE USE OF TOTAL PARENTERAL NUTRITION (TPN) FOR A PROTEIN CHALLENGE IN PATIENTS WITH METHYLMALONIC ACIDURIA. |
| 25 | Falk, Marni, J. | (+) EPICATECHIN THERAPY HAS BENEFICIAL EFFECTS IN HUMAN CELL AND C. elegans MODELS OF PRIMARY MITOCHONDRIAL RESPIRATORY CHAIN DISEASE |
| 26 | Tarasenko, Tatiana N. | HEPATIC MITOCHONRIAL ADAPTATIONS DURING SYSTEMIC IMMUNE ACTIVATION: IMPLICATIONS FOR INBORN ERRORS OF METABOLISM |
| 27 | Linares, Ricardo A. | CLINICAL AND GENETIC ASSESSMENT OF A PATIENT PRESENTING WITH GENERALIZED CHOREA FROM THE NIH UNDIAGNOSED DISEASES PROGRAM (UDP) |
| 28 | Ellsworth, Katazyna TRAVEL AWARD WINNER (See abstract under Travel awards) |
QUANTIFICATION OF URINE KERATAN SULFATE LEVELS IN MUCOLIPIDOSIS II AND III PATIENTS BY UPLC-MS/MS |
| 29 | Niemi, Anna-Kaisa | HAWKINSINURIA PRESENTING AS FAILURE TO THRIVE, METABOLIC ACIDOSIS, HEMOLYTIC ANEMIA AND PYROGLUTAMIC ACIDURIA IN FRATERNAL TWINS |
| 30 | Niemi, Anna-Kaisa | MITOCHONDRIAL COMPLEX CARE CLINIC MODEL – EMPOWERING FAMILIES AS PART OF THE CARE TEAM |
| 31 | Studinski, April L. | IMPROVING THE DIAGNOSTIC CHALLENGES OF MUCOPOLYSACCHARIDOSES |
| 32 | Coughlin II, Curtis R. | COPY NUMBER LOSS PROXIMAL TO THE CODING REGION OF THE ORNITHINE TRANSCARBAMYLASE (OTC) GENE CONFERS SEVERE NEONATAL OTC DEFICIENCY (OTCD): THE FIRST REPORT THAT A DISTANT MUTATION CAN CONFER OTCD |
| 33 | McClure, Julie | HOMOCYSTEINEMIA DUE TO MTHFR DEFICIENCY IN A YOUNG ADULT PRESENTING WITH BILATERAL LENS DISLOCATION |
| 34 | Conway, Robert L. | A CASE OF MATERNAL METHIONINE ADENOSYLTRANSFERASE DEFICIENCY WITH MILD NEUROLOGIC CLINICAL FEATURES FINDINGS IDENTIFIED THROUGH NEWBORN SCREENING |
| 35 | Hasadsri, Linda TRAVEL AWARD WINNER (See abstract under Travel awards) |
DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE III, A NOVEL DISORDER OF HYDROXYPROLINE METABOLISM, BY GC-MS ANALYSIS OF URINE |
| 36 | Vats, Divya | BIOTIN RESPONSIVE HOLOCABOXYLASE SYNTHASE DETECTED BY ISOLATED ELEVATION OF C3 AND C5-OH ON NEWBORN SCREEN |
| 37 | Sremba, Leighann | CONGENITAL MUSCULAR DYSTROPY IN THE METBOLIC CLINIC |
| 38 | Shepard, Peter J. | RUNS OF HOMOZYGOSITY ASSOCIATED WITH PHENOTYPIC EXPRESSION IN CASES OF 3-MCC DEFICIENCY. |
| 39 | Andersson, H.C. | EVALUATION OF BEHAVIOR, EXECUTIVE FUNCTION, NEUROTRANSMITTER FUNCTION AND GENOMIC EXPRESSION IN PKU "NONRESPONDERS" TO SAPROPTERIN |
| 40 | Adams, David R. | COMPLEX PRESENTATION OF 2-METHYL-3-HYDROXYBUTRYL-CoA-DEHYDROGENASE (MHBD) DEFICIENCY, STEROID SULFATASE DEFICIENCY AND MULTIPLE CHROMOSOMAL DEFECTS |
| 41 | Sparks, Susan E. | FKRP MUTATIONS RESULT IN DEFECTIVE GLYCOSYLATION AND A MUSCULAR DYSTROPHY PHENOTYPE |
| 42 | Freehauf, Cynthia L. | FIRST REPORT OF PRENATAL HYDROXOCOBALAMIN (VITAMIN B12) THERAPY IN cblA CLASS METHYLMALONIC ACIDEMIA |
| 43 | Wang, Lili | GENE THERAPY FOR UREA CYCLE DISORDERS: CHARACTERIZATION AND RESCUE OF THE ORNITHINE TRANSCARBAMYLASE KNOCKOUT MOUSE |
| 44 | Goldstein, Amy | INDIRECT CALORIMETRY ESTIMATES OF FAT OXIDATION ARE CORRELATED WITH AGE AT PRESENTATION OF LONG-CHAIN FATTY ACID OXIDATION DISORDER |
| 45 | Ng, Bobby G. | MUTATIONS IN CAD IMPAIR DE NOVO PYRIMIDINE BIOSYNTHESIS AND DECREASE GLYCOSYLATION PRECURSORS |
| 46 | El-Hattab, Ayman W. | GLUCOSE METABOLISM DERANGEMENTS IN ADULTS WITH THE MELAS MUTATION M.3243A>G |
| 47 | Morton, D. Holmes | CARDIOMYOPATHY IS COMMON IN THE PROPIONIC ACIDEMIA VARIANT PCCB c.1606a>g AND CAN BE PREVENTED AND REVERSED BY METABOLIC THERAPY. |
| 48 | Anikster, Yair | INHERITED GLYCOSYL PHOSPHATIDYLINOSITOL DEFICIENCY DUE TO A MUTATION IN PIGM CAUSES PORTAL VEIN THROMBOSIS AND ABSENCE SEIZURES |
| 49 | Morizono, Hiroki | WHY IS N-ACETYLGLUTAMATE DEFICIENCY SO RARE? |
| 50 | Vladutiu, R. | INBORN ERRORS OF MUSCLE METABOLISM IMPLICATED IN RISK FOR STATIN-INDUCED MYOPATHY. |
| 51 | Wolfe, Lynne A. | FAILURE TO THRIVE IN CHILDREN WITH MITOCHONDRIAL DISEASES |
| 52 | Lourenco, Charles Marques TRAVEL AWARD WINNER (See abstract under Travel awards) |
UNRAVELING A NEUROMETABOLIC HEREDITARY SPASTIC PARAPLEGIA: B4GALNT1 DEFICIENCY AS NEW INBORN ERROR OF METABOLISM AFFECTING GLYCOSPHINGOLIPID BIOSYNTHESIS |
| 53 | Caldovic, Ljubica | AMP-DEPENDENT PROTEIN KINASE REGULATES UREA CYCLE GENES IN RESPONSE TO DIETARY PROTEIN INTAKE |
| 54 | Hasadsri, Linda | A NOVEL ARYLSULFATASE B MUTATION IN A PATIENT WITH MUCOPOLYSACCHARIDOSIS TYPE VI MISDIAGNOSED AS AUSTIN SYNDROME |
| 55 | Haberle, Johannes | NATURAL COURSE OF 63 NEONATAL ONSET UREA CYCLE DEFECT PATIENTS IN THE YEARS 2001-2013 |
| 56 | Bartley, James | A SITE-SPECIFIC POST-ANALYTICAL TOOL OF THE REGION 4 STORK (R4S) IMPROVES THE EVALUATION OF PROXIMAL UREA CYCLE DISORDERS FOR INFANTS WHOSE CITRULLINE IS ≤5 μmol/L ON CALIFORNIA NEWBORN SCREENING. |
| 57 | Alhariri, Ahmad | GAUCHER DISEASE AND LANGERHANS CELL HISTIOCYTOSIS |
| 58 | Enns, Gregory M. | CORRELATION OF GLUTATHIONE REDOX POTENTIAL WITH MITOCHONDRIAL DISEASE ETIOLOGY AND CLINICAL SEVERITY |
| 59 | Coldwell, James | MEDIUM CHAIN ACYL-CoA-DEHYDROGENASE DEFICIENCY IN THE NEWBORN: A TALE OF TWO SISTERS |
| 60 | Dieter, Brady R. | CHARACTERIZATION OF GLB1 cDNA FROM NORMAL AND GM1-GANGLIOSIDOSIS AFFECTED OVINE FIBROBLASTS TO CONFIRM A POSSIBLE DISEASE-CAUSING MUTATION |
| 61 | Rose, Shannon TRAVEL AWARD WINNER (See abstract under Travel awards) |
OXIDATIVE STRESS INDUCES MITOCHONDRIAL DYSFUNCTION IN AUTISM CELL LINES |
| 62 | Longo, Nicola | ANAPLEROTIC THERAPY IN PROPIONIC ACIDEMIA |
| 63 | Gropman, Andrea | REDUCED FRONTO-PARIETAL FUNCTIONAL CONNECTIVITY IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
| 64 | Matern, Dietrich | Measurement of psychosine in dried blood spots – A possible improvement of newborn screening for Krabbe disease. |
| 65 | Matern, D. | Newborn screening for Lysosomal Storage Disorders, Friedreich Ataxia, Wilson disease and X-Adrenoleukodystrophy. A comparative effectiveness study. |
| 66 | Matern, Dietrich | The (surprising) prevalence of 12 lysosomal storage disorders, Friedreich Ataxia, Wilson disease and X-Adrenoleukodystrophy in California. |
| 67 | Williams, M. | CITRATE TRANSPORTER DEFICIENCY IN A PREMATURE-GROWTH-RESTRICTED NEWBORN WITH RESPIRATORY INSUFFICIENCY, GROSS INCIDENTS AND PERSISTENT LACTIC ACIDOSIS. |
| 68 | McCormack, Shana, E. | TRANSCRIPTIONAL CORRELATES OF LINEAR GROWTH AND LIPID HOMEOSTASIS IN INDIVIDUALS WITH MITOCHONDRIAL RESPIRATORY CHAIN DISEASE |
| 69 | Sahai, I. | LOW CITRULLINE AS A MARKER FOR THE PROXIMAL UREA CYCLE DEFECTS: EIGHT YEAR EXPERIENCE OF THE NEW ENGLAND NEWBORN SCREENING PROGRAM |
| 70 | Woontner, Michael | CORRELATING ENZYME ACTIVITY AND GENOTYPE OF VERY LONG-CHAIN Acyl-CoA DEHYDROGENASE |
| 71 | Wood, Philip A. | PURSUING “DISEASE IN A DISH” MODELING OF HUMAN MITOCHONDRIAL FATTY ACID OXIDATION DEFICIENCY DISEASES |
| 72 | Venturoni, Leah | DEEP SEQUENCING OF GCDH IN KNOWN GLUTARIC ACIDEMIA TYPE 1 PATIENTS |
| 73 | Vela-Amieva, M. | NEONATAL ACUTE SEVERE ONSET INBORN ERRORS OF INTERMEDIARY METABOLISM IN NEONATAL INTENSIVE CARE UNITS AND EMERGENCY WARDS IN MEXICO |
| 74 | Harding, Cary O. | PHARMACOLOGIC INHIBITION OF L-TYROSINE DEGRADATION AMELIORATES CEREBRAL DOPAMINE DEFICIENCY IN MURINE PHENYLKETONURIA (PKU) |
| 75 | Winn, Shelley R. | SAPROPTERIN DIHYDROCHLORIDE THERAPY RESTORES BRAIN MONOAMINE NEUROTRANSMITTER CONTENT IN MURINE PHENYLKETONURIA (PKU) |
| 76 | Langaee, Taimour | HAPLOTYPE VARIATIONS INFLUENCE HUMAN GSTZ1 GENE EXPRESSION AND THE KINETICS OF THE ANTI-TUMOR DRUG DICHLOROACETATE (DCA) |
| 77 | Stuy, M. | REFEEDING SYNDROME (RFS) ACCOMPANIED BY HYPERAMMONEMIA IN A YOUNG WOMAN WITH ARGINOSUCCINATE LYASE (ASL) DEFICIENCY |
| 78 | Morava, Eva | DEFINING MAN1B1 DEFICIENCY, A NOVEL GLYCOSYLATION DISORDER LEADING TO INTELLLECTUAL DISABILITY, TRUNCAL OBESITY AND A UNIQUE GLYCOSYLATION PATTERN |
| 79 | Tim-aroon, Thipwimol TRAVEL AWARD WINNER (See abstract under Travel awards) |
HOLDING PARENTERAL NUTRITION FOR 3 HOURS BEFORE NEWBORN SCREENING MARKEDLY REDUCES FALSE POSITIVE AMINO ACID RESULTS |
| 80 | Grange, Dorothy K. | MISSOURI’S EXPERIENCE WITH FULL POPULATION PILOT NEWBORN SCREENING FOR POMPE, GAUCHER, FABRY AND HURLER DISORDERS USING DIGITAL MICROFLUIDICS METHODOLOGY |
| 81 | Manoli, I. | CRITICAL REAPPRAISAL OF MEDICAL FOODS UTILIZATION IN METHYLMALONIC ACIDEMIA |
| 82 | Mercimek-Mahmutoglu, S | THIRTEEN NEW PATIENTS WITH GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY AND FUNCTIONAL CHARACTERIZATION OF NINETEEN MISSENSE VARIANTS IN THE GAMT GENE |
| 83 | Mercimek-Mahmutoglu, S | RETROSPECTIVE REVIEW OF CEREBROSPINAL FLUID CATECHOLAMINE AND SEROTONIN METABOLITES FOR INDICATIONS AND DIAGNOSIS OF NEUROTRANSMITTER DISORDERS |
| 84 | Shchelochkov, Oleg A. | ASSESSMENT OF BARRIERS TO DRUG ADHERENCE IN THE TREATMENT OF UREA CYCLE DISORDERS IN NORTH AMERICA |
| 85 | Turgeon, Raymond K. | CHOLESTANE-3β, 5α, 6β-TRIOL ANALYSIS IN DRIED BLOODS SPOTS FOR THE EVALUATION OF NIEMANN-PICK TYPE C DISEASE |
| 86 | Suormala, Jusufi | CHARACTERIZATION OF FUNCTIONAL DOMAINS OF MMADHC, A PROTEIN RESPONSIBLE FOR INTRACELLULAR COBALAMIN PROCESSING |
| 87 | Muenzer, Joseph | INVESTIGATIONAL INTRATHECAL ENZYME REPLACEMENT THERAPY FOR CHILDREN WITH THE SEVERE FORM OF HUNTER SYNDROME (MUCOPOLYSACCHARIDOSIS II) |
| 88 | Camp, Kathryn M. | PHENYLKETONURIA SCIENTIFIC REVIEW CONFERENCE: FINDINGS AND RESEARCH AGENDA |
| 89 | Zhu, Alyssa | OPHTHALMOLOGIC FINDINGS IN PRIMARY MITOCHONDRIAL DISEASE |
| 90 | Merritt, J. Lawrence | A RATIONALE FOR NEWBORN SCREENING FOR PROXIMAL UREA CYCLE DISORDERS |
| 91 | Merritt, J. Lawrence | ETHICAL RATIONALE FOR RECONSIDERING NEWBORN SCREENING FOR PROXIMAL UREA CYCLE DISORDERS |
| 92 | El-Gharbawy, Areeg | OPTIMIZING METABOLIC CONTROL OF GLYCOGEN STORAGE DISEASE TYPE 3 (GSD3): POTENTIAL ROLE FOR MEDIUM CHAIN TRIGLYCERIDES (MCT) |
| 93 | Jay, Allison | URINARY SULFATIDE andCERAMIDE TRIHEXOSIDES ANALYSIS BY LC-MS/MS AND POST-ANALYTICAL INTERPRETRATION EMPLOYING THE COLLABORATIVE LABORATORY INTEGRATED REPORTS (CLIR) SOFTWARE. |
| 94 | De Jesus, Victor R. | ASSURING QUALITY OF NEWBORN SCREENING DRIED-BLOOD SPOT ASSAYS WORLDWIDE: THE CDC’S NEWBORN SCREENING QUALITY ASSURANCE PROGRAM |
| 95 | De Jesus, Victor R. | A SIMPLE ASSAY TO EXAMINE AMINO ACID AND PROTEIN CONTENT OF HUMAN BREAST MILK, HOMOGENIZED BOVINE WHOLE MILK, AND INFANT FORMULAS |
| 96 | Hauser, Natalie | 3-HYDROXYISOBUTYRIC ACIDURIA: PATIENT DESCRIPTION AND BIOCHEMICAL ABNORMALITIES |
| 97 | Wang, Fang | IDH2(R140Q) KNOCK-IN MOUSE RECAPITULATING HUMAN TYPE II D-2-HYDROXYGLUTARIC ACIDURIA |
| 98 | Frye, Richard E. | TREATABLE METABOLIC DISORDERS ASSOCIATED WITH AUTISM SPECTRUM DISORDER |
| 99 | Nagamani, S.C. | TREATMENT-RELATED SIGNS AND SYMPTOMS AMONG PATIENTS WITH UREA CYCLE DISORDERS (UCD’S) DURING TREATMENT WITH SODIUM PHENYLBUTYRATE (NaPBA) AND GLYCEROL PHENYLBUTYRATE (GPB) |
| 100 | Ahring, Kirsten | OBESITY AND OVERWEIGHT IN PKU: THE RESULTS FROM 9 CENTRES IN EUROPE AND TURKEY |
| 101 | Belanger-Quintana, A. | MULTICENTER STUDY ON GROWTH IN PKU PATIENTS: PRELIMINARY RESULTS |
| 102 | Khuchua, Zaza | CARDIAC METABOLIC PATHWAYS AFFECTED IN MOUSE MODEL OF BARTH SYNDROME |
| 103 | Strauss, Arnold | STRESS-INDUCED LETHALITY IN CARDIAC-SPECIFIC VLCAD KNOCKOUT MICE |
| 104 | Ney, Denise | SKELETAL FRAGILITY AND RENAL IMPAIRMENT IN PHENYLKETONURIA: INSIGHTS FROM PAHenu2MICE |
| 105 | Estrada-Veras, Juvianee | CEREBELLAR HYPOMETABOLISM IN ERDHEIM CHESTER DISEASE: HISTIOCYTIC INFILTRATION, EARLY NEURODEGENERATION OR UNDERLYING METABOLIC DEFICIT? |
| 106 | Pallone, Nicole | CASE REVIEW OF RP: TREATING PKU PATIENTS UNDER 4 YEARS OLD WITH SAPROPTERIN |
| 107 | Cingi, Elif | PRE PROCEDURAL MIDAZOLAM ADMINISTRATION SAFETY AND EFFICACY FOR SAN FILIPPO A SYNDROME PATIENTS |
| 108 | Chagnon, S. | PYRIDOXYL 5 PHOSPHATE DEFICIENCY IN A PATIENT WITH MITOCHONDRIAL DEPLETION SYNDROME AND LEIGH DISEASE DUE TO SUCLG1 MUTATIONS: A TREATABLE CO-MORBIDITY |
| 109 | Huizing, Marjan | SIALYLATION OF THOMSEN-FRIEDENREICH ANTIGEN IS A NONINVASIVE BLOOD-BASED BIOMARKER FOR GNE MYOPATHY |
| 110 | Smith, Laurie D. | WHOLE GENOME SEQUENCING AS A DIAGNOSTIC TOOL IN A PRESUMED INBORN ERROR OF METABOLISM |
| 111 | Yano, S. | INCORPORATING NEUROTRANSMITTER METABOLITES MELATONIN AND DOPAMINE FOR OPTIMIZING DIETARY MANAGEMENT OF PHENYLKETONURIA: TRYPTOPHAN SUPPLEMENTATION ALONE DOES NOT IMPROVE SEROTONIN METABOLISM |
| 112 | Raile, Klemens | PTERIN-4A-CARBINOLAMINE DEHYDRATASE DEFICIENCY: FROM NEONATAL HYPERPHENYLALANINEMIA TO EARLY-ONSET DIABETES |
| 113 | Naviaus, Robert K. | PURINERGIC SIGNALING AND THE CELL DANGER RESPONSE—NEW TOOLS FOR UNDERSTANDING THE BEHAVIORAL FEATURES OF PURINE AND PYRIMIDINE DISORDERS |
| 114 | Wang, Y | FUNCTIONAL AND PHYSICAL MAPPING OF THE ARCHITECTURE OF MITOCHONDRIAL ENERGY METABOLISM |
| 115 | Frazier, Dianne | NEED FOR EVIDENCE-BASED RESEARCH TO ASSESS BENEFITS OF NUTRITION TREATMENTS FOR RARE INBORN ERRORS OF METABOLISM |
| 116 | Blau, Nenad | IEMBASE, A KNOWLEDGEBASE OF INBORN ERRORS OF METABOLISM |
| 117 | Wettstein, Sarah | LINKING GENOTYPES AND LOCUS-SPECIFIC DATABASES WITH TOOLS FOR PREDICTION OF PHENOTYPE AND TETRAHYDROBIOPTERIN-RESPONSIVENESS IN PHENYLKETONURIA |
| 118 | Gillis, L.J. | MOLECULAR, BIOCHEMICAL AND CLINICAL HETEROGENEITY IN VERY-LONG-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY: THE CANADIAN ATLANTIC MARITIME PROVINCES NEWBORN SCREENING EXPERIENCE |
| 119 | Van Calcar, Sandra C. | DEVELOPMENTAL OUTCOMES OF SHORT-BRANCHED CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY (SBCADD) IN THE HMONG-AMERICAN POPULATION:RESULTS FROM A PROSPECTIVE COHORT STUDY IN WISCONSIN |
| 120 | Minkler, Paul E. | RAPID, COMPREHENSIVE, SELECTIVE, ACCURATE, AND PRECISE QUANTIFICATION OF ACYLCARNITINES AND ACYL-CoAs IN TISSUES USING ON-LINE ION-EXCHANGE TRAPPING AND UHPLC-MS/MS |
| 121 | Deschenes, E. | ASSESSMENTS OF EXECUTIVE FUNCTION PERFORMANCE BEFORE AND AFTER SAPROPTERIN TREATMENT IN PATIENTS WITH PHENYLKEONURIA |
| 122 | Kimonis, Virginia | VARIABLE CLINICAL FEATURES IN 13 PATIENTS WITH POMPE DISEASE |
| 123 | Pfeil, Johannes | NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY FOR GLUTARIC ACIDURIA TYPE 1: A COST-EFFECTIVENESS ANALYSIS |