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Last Name

First Name

Title

1

Ames

Elizabeth

NEUROLOGIC IMAGING IN NEONATES WITH INHERITED METABOLIC DISORDERS DURING ACUTE METABOLIC DECOMPENSATIONS

2

Babcock

Shannon

PROGRESSIVE VISION LOSS AND RETINAL DYSFUNCTION IN A NOVEL MURINE MODEL OF LCHADD

3

Barzi

Mercedes

RESCUE OF GLUTARIC ACIDURIA TYPE I MICE BY LIVER DIRECTED THERAPIES

4

Harmon

Jenny

CHANGING THE OUTCOME FOR PATIENTS WITH THIAMINE PYROPHOSPHOKINASE DEFICIENCY, A TREATABLE CAUSE OF LEIGH DISEASE

5

Koch

Rebecca

HEPATIC INVOLVEMENT IN GLYCOGEN STORAGE DISEASE TYPE IV: NEW INSIGHTS AND THERAPEUTIC IMPLICATIONS

6

Priestly

Jessica

ARE SOCIAL VARIABLES PREDICTORS OF MORBIDITY AND MORTALITY IN INBORN ERRORS OF METABOLISM?

7

Abdala Villa

Caterina

POSITIVE NEWBORN SCREEN (NBS) SECONDARY TO CONGENITAL CYTOMEGALOVIRUS (CMV) INFECTION  

8

Adams

John

PPARδ; AGONIST REN001 IMPROVES MITOCHONDRIAL FUNCTION IN SKELETAL MUSCLE: A POTENTIAL TREATMENT FOR PRIMARY MITOCHONDRIAL MYOPATHIES

9

Alharbi

Hana

IMPROVING THE DIAGNOSTIC EVALUATION OF CHILDREN WITH INTELLECTUAL DISABILITY AND GLOBAL DEVELOPMENTAL DELAY IN PRIMARY CARE SETTING

10

Alodaib

Ahmad

METABOLOMICS AS A PROMISING TOOL FOR IMPROVING UNDERSTANDING OF GALACTOSEMIA

11

Armstrong

Allison

INSURANCE CLAIMS DATA ANALYSIS OF HOSPITALIZATION FREQUENCY AND DURATION IN PROPIONIC AND METHYLMALONIC ACIDEMIA PATIENTS

12

Bailey

Evan

EXPERIENCE IN A COHORT OF ADULTS WITH CLASSIC GALACTOSEMIA TREATED WITH THE ALDOSE REDUCTASE INHIBITOR AT-007 FOR 12 MONTHS

13

Baker

Joshua

NEWBORN SCREENING FOR ACID SPHINGOMYELINASE DEFICIENCY IN ILLINOIS: A SINGLE CENTER'S EXPERIENCE

14

Balakrishnan

Bijina

WHOLE-BODY GALACTOSE OXIDATION AS A ROBUST FUNCTIONAL ASSAY TO EVALUATE THE EFFECTIVENESS OF HGALT GENE-BASED THERAPIES IN A MOUSE MODEL OF CLASSIC GALACTOSEMIA    

15

Balkaya

Seda

INTERMITTENT MSUD CASE, IN AN UNEXPLAINED ENCEPHALOPATH IN AN ADULT AFTER CARDIAC SURGERY     

16

Barman

Hannah

RETROSPECTIVE STUDY OF PROPIONIC ACIDEMIA USING NATURAL LANGUAGE PROCESSING IN MAYO CLINIC EHR DATA

17

Basu

Shakuntala

A VLCAD/LCAD MUSCLE DOUBLE KNOCK OUT MOUSE MODEL  

18

Bedoyan

Jirair

PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY, A MITOCHONDRIAL NEUROMETABOLIC DISORDER OF ENERGY DEFICIT IN NEED OF A GENE-SPECIFIC TARGET-BASED SMALL MOLECULE THERAPY: OUR APPROACH

19

Boone

Kiley

NEGATIVE SCREENING RESULTS FOR METABOLIC ABNORMALITIES IN A COHORT OF PATIENTS WITH HYPERMOBILITY

20

Burton

Jennifer

EXPANDING THE PHENOTYPE OF MT-ATP6: DIAGNOSIS OF MULTIPLE FAMILY MEMBERS AFTER AN ABNORMAL NEWBORN SCREEN

21

Caldovic

Ljubica

BIOMARKERS FOR BIOCHEMICAL, PATHOPHYSIOLOGICAL, AND NEUROLOGICAL EFFECTS OF HIGH AMMONIA ON THE BRAIN  

22

Carey

Margaret

NEUROLOGICAL AND PSYCHOLOGICAL COMORBIDITIES IN 36 INDIVIDUALS WITH MSUD ENROLLED IN THE IBEM-IS DATABASE

23

Chapman

Kimberly

DISEASE-RELATED BIOMARKER LEVELS IN PROPIONIC AND METHYLMALONIC ACIDEMIA PATIENTS ENROLLED IN A PHASE 2 STUDY

24

Chau

Nhu

A RAPID, IMPROVED METHOD FOR DETECTION OF N-ACETYLGLUTAMATE, N-CARBAMYLGLUTAMATE, AND N-ACETYLASPARTATE BY HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY

25

Clocksin

Hayley

THE RELATIONSHIP BETWEEN NEUROCOGNITION AND WHITE MATTER INTEGRITY IN ADULTS WITH EARLY-TREATED PHENYLKETONURIA AS EVIDENCED USING DIFFUSION KURTOSIS IMAGING (DKI)  

26

Cortes Fernandez

Andrea

LIVER TRANSPLANT IN A PATIENT WITH CLASSIC GALACTOSEMIA

27

D'Annibale

Olivia

IDENTIFICATION OF ECHS1 DEFICIENCY USING PLASMA ACYLCARNITINE ANALYSIS

28

de Souza

Adrine

LARGE-SCALE TESTING OF AGXT MISSENSE VARIANT EFFECTS

29

DiSanza

Brianna

BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) AS A NOVEL CANDIDATE GENE FOR PEDIATRIC NEURODEGENERATION

30

Doederlein Schwartz

Ida Vanessa

MAY LYSOSOMAL-RELATED GENES BE LINKED TO ATYPICAL PARKINSONISM? A BRAZILIAN STUDY 

31

Doederlein Schwartz

Ida Vanessa

GENOME SEQUENCING FOR PATIENTS WITH SUSPECTED INHERITED METABOLIC DISEASES IN BRAZIL  

32

Draper

Katie

MORE PHYSIOLOGICAL ABSORPTION OF A PROLONGED RELEASE AMINO ACID SUPPLEMENT: PRECLINICAL EVIDENCE OF IMPROVED AMINO ACID UTILIZATION

33

Duque Lasio

Maria Laura

MALE EBP DISORDER WITH NEUROLOGIC DEFECTS: IS METABOLIC TESTING ENOUGH FOR VARIANT RECLASSIFICATION?

34

Eam

Euhun

GENETIC PREVALENCE OF PRIMARY HYPEROXALURIA TYPE 1

35

El-Gharbawy

Areeg

TRIHEPTANOIN FOR PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE I (GSDI): PILOT CLINICAL TRIAL RESULTS

36

Elizondo

Gabriela

EXPRESSION OF AAV-HADHA REDUCES 3-HYDROXY-ACYLCARNITINES, RESCUES KETONE PRODUCTION AND INCREASES VIABILITY IN LCHADD RETINAL PIGMENT EPITHELIAL CELLS

37

Ellenberg

Elisheva

ARGININOSUCCINIC ACID IS EXQUISITELY SENSITIVE AND SPECIFIC COMPARED TO CITRULLINE IN SCREENING FOR ARGININOSUCCINIC ACID LYASE DEFICIENCY VIA NEWBORN SCREENING: MICHIGAN'S 10 YEARS OF EXPERIENCE.

38

Fleischer

Julie

LATE ONSET TYROSINEMIA OF THE NEWBORN WITH HUMAN MILK-BASED FORTIFIERS IN LOW BIRTH WEIGHT INFANTS  

39

Frigeni

Marta

PRIMARY CARNITINE DEFICIENCY: THE EFFECT OF 4-PHENYLBUTYRIC ACID ON NATURAL MUTATIONS

40

Gao

Lan

A RANDOMIZED, OPEN-LABEL, CROSSOVER STUDY TO EVALUATE THE RELATIVE ORAL BIOAVAILABILITY OF 2 FORMULATIONS OF SEPIAPTERIN AND PALATABILITY AND THE FOOD EFFECT ON THE PHASE 3 FORMULATION IN HEALTHY SUBJECTS

41

Gijavanekar

Charul

COMPREHENSIVE SCREENING OF BLOOD-BASED BIOMARKERS IMPROVES DIAGNOSIS OF GABA CATABOLISM ABNORMALITIES AND HIGHLIGHTS OPPORTUNITIES TO REDUCE HEALTH DISPARITIES IN GENETIC DIAGNOSIS

42

Gilmor

Michelle

RGX-111 GENE THERAPY FOR THE TREATMENT OF SEVERE MUCOPOLYSACCHARIDOSIS TYPE I (MPS I):  INTERIM ANALYSIS OF DATA FROM THE FIRST IN HUMAN STUDY

43

Giugliani

Roberto

VESTRONIDASE ALFA FOR THE TREATMENT OF MUCOPOLYSACCHARIDOSIS VII (MPS VII): UPDATED RESULTS FROM A NOVEL, LONGITUDINAL, MULTICENTER DISEASE MONITORING PROGRAM

44

Gotway

Garrett

HYPERCHLOREMIC ACIDOSIS IN A PATIENT WITH ARGININOSUCCINATE LYASE DEFICIENCY

45

Hayse

Braden

SLEEP, DIET, AND COGNITION IN INDIVIDUALS WITH EARLY-TREATED PHENYLKETONURIA  

46

Hickey

Rachel

FURTHER EXPANSION AND CLINICAL CHARACTERIZATION OF THE PROGRESSIVE NEUROLOGIC PHENOTYPE OF SARS2-RELATED DISORDER: A CASE REVIEW

47

Himmelreich

Nastassja

PREVALENCE OF DDC VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY  

48

Himmelreich

Nastassja

PATHOGENICITY CLASSIFICATION OF PHENYLALANINE HYDROXYLASE (PAH) MISSENSE VARIANTS USING ACMG/AMP/ACGS RECOMMENDATIONS, VARIANT EFFECT PREDICTORS (VEP) AND 3D ANALYSI

49

Himmelreich

Nastassja

REDUCED BIOTINIDASE ACTIVITY IN PATIENTS WITH CONGENITAL DISORDERS OF GLYCOSYLATION (CDG): BIOTIN AS A NEW THERAPEUTIC APPROACH?  

50

Hollander

Suzanne

EVALUATING TRENDS IN SELF-RATED HISTORIC METABOLIC CONTROL AND TREATMENT HISTORY AMONG PRISM PARTICIPANTS  

51

Huang

Taosheng

MITOCHONDRIAL DNA MUTATIONS ARE ASSOCIATED WITH HIGHER LEVELS OF 8-OXOGUANINE AND CAUSE PREMATURE AGING

52

Ingoglia

Filippo

MADD-LIKE PATTERN IN PLASMA ACYLCARNITINE PROFILE ASSOCIATED WITH SERTRALINE USE.

53

Jackson

David

MUSCLE ULTRASOUND IN PATIENTS WITH LATE-ONSET POMPE DISEASE IDENTIFIED BY NEWBORN SCREENING

54

Jain

Mahim

DEVELOPMENT OF A PATIENT IDENTIFICATION ALGORITHM TO ESTIMATE PREVALENCE OF CLASSICAL HOMOCYSTINURIA IN THE UNITED STATES (US)  

55

Jalazo

Elizabeth

AT-007 AS POTENTIAL TREATMENT FOR PMM2 CONGENITAL DISORDER OF GLYCOSYLATION: SAFETY AND EFFICACY RESULTS AFTER ONE YEAR OF TREATMENT WITH THE ALDOSE REDUCTASE INHIBITOR AT-007 IN A PATIENT AFFECTED BY PMM2 CONGENITAL DISORDER OF GLYCOSYLATION   

56

Jang

Jessica

ACCELERATION OF ALKAPTONURIC SPONDYLOARTHROPATHY IN A PATIENT WITH CHRONIC KIDNEY DISEASE    

57

Jerves

Teodoro

AORTIC VALVULAR DISEASE IN ADULTS WITH ALKAPTONURIA

58

Johannsson

Freyr

COMPARISON BETWEEN BEDSIDE AND LC-MS/MS PBG TESTS FOR TIMELY DIAGNOSIS OF ACUTE PORPHYRIAS  

59

Johnson

Britt

THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDERS

60

Johnson

Jacob

MACROMOLECULAR CONTENT IMAGING DETECTS EARLY MICROSTRUCTURAL DAMAGE TO WHITE MATTER IN YOUNG ADULTS WITH FABRY DISEASE

61

Jurgensen

Jacqulyn

ADENO-ASSOCIATED VIRUS GENE THERAPY FOR PROPIONIC ACIDEMIA  

62

Karunanidhi

Anuradha

EFFECT OF TRIHEPTANOIN AND MEDIUM BRANCHED-CHAIN FATTY ACIDS ON LYSINE SUCCINYLATION IN HUMAN MCAD DEFICIENT FIBROBLAST CELLS AND MURINE KO MODEL   

63

Konczal

Laura

DESIGN OF A PHASE 3 STUDY OF AAV-MEDIATED GENE TRANSFER OF ORNITHINE TRANSCARBAMYLASE (OTC) IN PATIENTS WITH LATE-ONSET OTC DEFICIENCY

64

Kripps

Kimberly

PYRIDOXINE DEPENDENT EPILEPSY: IDENTIFICATION OF A FOUNDER VARIANT IN THE MICRONESIAN POPULATION WITH SEVERE FEATURES          

65

Kyriss

McKenna

INBORN ERRORS OF METABOLISM IN PATIENTS IDENTIFIED VIA A RAPID MULTI-GENE PANEL OR RAPID EXOME SEQUENCING

66

Latini

Alexandra

ENHANCED ENERGY METABOLISM AND CYTOPROTECTION IN AMINOLEVULINATE/IRON-EXPOSED DARS2 DEFICIENT FIBROBLASTS

67

Leahy

Peter

NEWBORN SCREENING FOR NON-KETOTIC HYPERGLYCINEMIA: A SINGLE CENTER EXPERIENCE

68

Lee

Angela

SEVERE PRPS1 DEFICIENCY AND RESPONSE TO S-ADENOSYLMETHIONINE AND NICOTINAMIDE RIBOSIDE SUPPLEMENTATION

69

Lehman

April

RETROSPECTIVE EVALUATION OF SPECIFIC AMINO ACID RATIOS FOR SCREENING AND DIAGNOSTIC UTILITY FOR PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY (PDCD) AND OTHER MITOCHONDRIAL DISORDERS (MTDS)

70

Leon

Eyby

EARLY ONSET CLINICAL AND BIOCHEMICAL PHENOTYPE OF COBALAMIN C DISEASE IN CHILDREN OF GUATEMALAN ANCESTRY AND HOMOZYGOUS FOR THE c.328_331delAACC PATHOGENIC VARIANT 

71

Ligezka

Anna

COAGULATION ABNORMALITIES IN PMM2-CDG: NATURAL HISTORY STUDIES IN 50 CASES

72

Longo

Nicola

DESIGN OF A GLOBAL, MULTICENTER STUDY TO ASSESS MATERNAL, FETAL, AND INFANT OUTCOMES OF PEGVALIASE EXPOSURE DURING PREGNANCY AND BREASTFEEDING

73

LoPiccolo

Mary Kate

SKIN α-SYNUCLEIN SEEDING ACTIVITY IN ADULT PATIENTS WITH TYPE 1 GAUCHER DISEASE

74

LoPiccolo

Mary Kate

ALDER-REILLY ANOMALY LEADS TO THE EARLY DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS TYPE VI

75

Lourenco

Charles

UNRAVELING PHENOTYPES IN A COHORT OF BRAZILIAN PATIENTS WITH CUTANEOUS PORPHYRIAS : INTEGRATING BIOCHEMICAL TESTING AND A TARGETED GENE PANEL TO SOLVE CLINICAL CONUNDRUMS    

76

Machado

Michael

NONINVASIVE QUANTIFICATION OF HEPATIC GLYCOGEN BEFORE AND AFTER mRNA THERAPY IN A MOUSE MODEL OF GLYCOGEN STORAGE DISEASE TYPE III

77

MacLeod

Erin

VALIDATION OF A NOVEL FOOD PHOTOGRAPHY METHOD FOR DIETARY ASSESSMENT IN INDIVIDUALS WITH UREA CYCLE DISORDERS

78

Maillot

Francois

CARDIOVASCULAR ISSUES IN ADULT PATIENTS WITH PHENYLKETONURIA: A REVIEW.

79

Majtan

Tomas

A QUANTITATIVE SYSTEMS PHARMACOLOGY (QSP) MODEL FOR CLASSICAL HOMOCYSTINURIA PREDICTING EFFICACY OF TREATMENT

80

Mao

Rong

THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: APPLYING A STANDARDIZED CURATION FRAMEWORK TO ASSESS THE CLINICAL VALIDITY OF GENES FOR LYSOSOMAL DISEASE.  

81

Mares Beltran

Carlos

BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS DETECTED BY CALIFORNIA NEWBORN SCREENING (NBS) PROGRAM

82

McGowan

Rachel

HYPERAMMONEMIA, CARNITINE DEFICIENCY, AND RHABDOMYOLYSIS IN UNDIAGNOSED 3-MCC PATIENT

84

Mejia

Joseph

TRANSPORTNPC: A PHASE 3 GLOBAL TRIAL OF TRAPPSOL CYCLO™ ADMINISTERED INTRAVENOUSLY TO PATIENTS WITH NIEMANN-PICK DISEASE TYPE C1 (NPC1)

85

Meurer de Andrade

Andrei

A PATIENT AND CAREGIVER CENTERED STUDY ON THE UNDERSTANDING OF CLASSICAL HOMOCYSTINURIA

86

Mongia

Sumedha

COST COMPARISON OF VENIPUNCTURE VS. MINIMALLY-INVASIVE AT-HOME BLOOD COLLECTION IN NEWBORN SCREEN PHENYLKETONURIA CONFIRMATION

87

Moore

Christine

NOVEL VARIANTS IDENTIFIED IN TWO SIBLINGS WITH MUCOPOLYSACCHARIDOSIS TYPE IIIC: THE ROLE OF FUNCTIONAL STUDIES IN CONFIRMING PATHOGENICITY

88

Morales Corado

Andres

MATERNAL GONOSOMAL MOSAICISM OF Xp11.4 DELETION CAUSING FAMILIAL OTC DEFICIENCY: A NOT SO COMMON FINDING

89

Morales Corado

Andres

HYPERLEUCINOSIS POST-TRANSPLANT IN A PATIENT WITH MAPLE SYRUP URINE DISEASE: A CASE REPORT.   

90

Mori

Mari

ECHS1 DEFICIENCY PRESENTING AS LETHAL NEONATAL LACTIC ACIDOSIS COMPLICATED BY INTRAUTERINE GROWTH RESTRICTION AND HYPOXIC-ISCHEMIC ENCEPHALOPATHY

91

Murphey

Kristen

A CASE OF COBALAMIN D-COMBINED TYPE MISSED BY NEWBORN SCREEN

92

Neira

Juanita

CHOLANGIOCARCINOMA, AN UNRECOGNIZED CANCER TYPE IN GSDIA?

93

Penon Portmann

Monica

PRE AND PERINATAL FINDINGS IN A CASE OF VARS2-RELATED ENCEPHALOCARDIOMYOPATHY

94

Perfetti

Riccardo

THE ALDOSE REDUCTASE INHIBITOR AT-007 PROMOTES A SIGNIFICANT AND DURABLE INHIBITION OF THE TOXIC METABOLITE GALACTITOL IN CHILDREN WITH CLASSIC GALACTOSEMIA

95

Perreault

Mylene

GASTROINTESTINAL METHIONINE METABOLISM WITH LIVE BIOTHERAPEUTICS SYNB1353 RESULTS IN IMPROVED PLASMA METHIONINE AND HOMOCYSTEINE LEVELS IN MICE AND NONHUMAN PRIMATES

96

Pino

Gisele

GLUCOSYLSPHINGOSINE AS AN AID TO THE IDENTIFICATION OF NEWBORNS WITH GAUCHER DISEASE

97

Quartel

Adrian

QUANTIFYING PREFERENCES FOR UREA CYCLE DISORDER TREATMENTS USING A DISCRETE CHOICE EXPERIMENT

98

Rangel Miller

Vanessa

LONG-CHAIN FATTY ACID OXIDATION DISORDER GENOTYPES, CLINICAL SIGNS AND SYMPTOMS, AND NEWBORN SCREENING HISTORY FROM A GENE PANEL SPONSORED PROGRAM

99

Rao

Nivedita

CORRELATION OF GLYCOSAMINOGLYCAN BIOMARKERS WITH BURDEN OF DISEASE IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE 1 (MPS1)

100

Reinhart

Michaela

CENTRAL RESPIRATORY FAILURE IN TRMU DEFICIENCY: A COMPLICATING FACTOR  

101

Safdar

Samreen

'ACUTE RESPIRATORY FAILURE AS PRESENTATION OF LATE-ONSET POMPE DISEASE: 2 CASE REPORTS'.

102

Schiff

Manuel

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN METHYLMALONIC ACIDEMIA DUE TO MUT DEFICIENCY

103

Schwahn

Bernd C.

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN PROPIONIC ACIDEMIA

104

Schwartz

Ida

METAB-LATAM: SHARING OF SCIENTIFIC KNOWLEDGE IN INBORN ERRORS OF METABOLISM  

105

Schwartz

Ida Vanessa Doederlein

PHENYLKETONURIA'S GENETIC LANDSCAPE IN BRAZIL

106

Schwartz

Ida Vanessa Doederlein

LANDSCAPE OF INBORN ERRORS OF METABOLISM IN BRAZIL: DATA FROM THE BRAZILIAN RARE DISEASES NETWORK

107

Selvanathan

Arthavan

STANDARD BIOMARKERS DO NOT CORRELATE WITH DISEASE PROGRESSION IN CHILDHOOD-ONSET COBALAMIN C DISEASE  

108

Seminotti

Bianca

ANAPLEROTIC COMPOUNDS IMPROVE O2 CONSUMPTION AND RESTORE SUCCINYLLYSINE ANTIGENIC SIGNAL IN LONG-CHAIN FATTY ACID OXIDATION DEFICIENT CELLS

109

Sen

Kuntal

ACUTE DECOMPENSATIONS IN SMALL MOLECULE AND ENERGY DEFICIENCY NEUROMETABOLIC DISORDERS -- NEUROMONITORING DATA FROM SINGLE CENTER OVER 10 YEARS

110

Serrano

Alvaro

PATIENT WITH LEARNING DIFFICULTIES WITH COEXISITING ACSL4 INTRAGENIC DELETION AND KNOWN VARIANT IN GNAS

111

Serrano

Alvaro

NOVEL MUTATIONS IN TLK2 SEEN IN PATIENTS WITH HIGH FUNCTIONING AUTISM AND CARDIOVASCULAR FEATURES

112

Shaw

Allison

X-LINKED ADRENOLEUKODYSTROPHY NEWBORN SCREENING EXPERIENCE AT CHILDREN'S NATIONAL HOSPITAL. 

113

Shinawi

Marwan

TREATMENT AND IMPROVED OUTCOMES OF THREE ADULT PATIENTS WITH GUANIDINOACETATE METHYLTRANSFERASE (GAMT) DEFICIENCY     

114

Simão Medeiros

Leonardo

GALACTOSE EPIMERASE DEFICIENCY IN LATIN AMERICA -- UNVEILING NEW FEATURES?

115

Simpson

Kara

CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES

116

Sloan-Heggen

Christina

ATYPICALLY MILD ETHYLMALONIC ENCEPHALOPATHY EXPANDS PHENOTYPIC SPECTRUM

117

Smith

Neil

PHASE 3 APHENITY LONG-TERM STUDY DESIGN: SEPIAPTERIN FOR TREATMENT OF PHENYLKETONURIA

118

Snyder

Matthew

SUCCESSFUL OUTPATIENT TRANSITION TO EXTENDED-RELEASE CORNSTARCH IN PATIENTS WITH GLYCOGEN STORAGE DISEASE

119

Sondheimer

Neal

SYNB1353, A PROPOSED THERAPY FOR HOMOCYSTINURIA, LOWERS PLASMA METHIONINE AND HOMOCYSTEINE IN HEALTHY VOLUNTEERS EXPOSED TO A METHIONINE CHALLENGE

120

Stacpoole

Peter

CURRENT STATUS OF THE PHASE 3 TRIAL OF DICHLOROACETATE (DCA) FOR PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY (PDCD)

121

Stander

Zinandré

IDENTIFYING A MADD-LIKE BIOCHEMICAL IMPOSTER BETTER KNOWN AS FLAVIN ADENINE DINUCLEOTIDE SYNTHASE DEFICIENCY: A RETROSPECTIVE CLIR APPROACH  

122

Swaringer

Tiffany

BIOCHEMICAL LABORATORY ROTATION:  OPTIMIZING EDUCATION WHILE SUPPORTING THE CURRENT WORKFORCE  

123

Szabo

Nicolas

EXPANSION OF THE LC-MS/MS PLATFORM WITH THE NEWBORN SCREENING OF X-ALD, POMPE DISEASE AND MPS-I WITH ONE DBS PUNCH

124

Torrice

Lindsay

INITIATION OF FLUOXETINE IN A PEDIATRIC PATIENT WITH MUCOPOLYSACCHARIDOSIS IIIA: EARLY OBSERVATIONS  

125

Viall

Sarah

EMBRACING USE OF TELEMEDICINE IN METABOLIC NEWBORN SCREENING (NBS) FOLLOW-UP   

126

Vieira Neto

Eduardo

ELAMIPRETIDE RESTORES MITOCHONDRIAL FUNCTION IN TRIFUNCTIONAL PROTEIN DEFICIENCY MICE AND HUMAN FIBROBLASTS

127

Vucko

Erika

ONE CENTER'S UPDATED EXPERIENCE WITH EMPAGLIFLOZIN TREATMENT FOR GLYCOGEN STORAGE DISEASE 1B

128

Wilson

Kirkland

USE OF ASPARTATE AMINOTRANSFERASE AS A MARKER FOR ACUTE RHABDOMYOLYSIS WHEN CREATINE KINASE IS 'UNMEASURABLE': A SINGLE SITE CASE SERIES

129

Wobst

Heike

A SMALL MOLECULE SLC6A19 INHIBITOR INCREASES URINARY PHENYLALANINE EXCRETION AND REDUCES ITS PATHOGENIC PLASMA ACCUMULATION IN A PHENYLKETONURIA MOUSE MODEL

130

Wongkittichote

Parith

BIOCHEMICAL CHARACTERIZATION OF THE PATIENTS WITH DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY

131

Wood

Tim

A SURVEY OF ACYLCARNITINE METHODS AND QUALITY CONTROL PROTOCOLS FROM CLINICAL LABORATORIES  SUBMITTED ON BEHALF OF THE SIMD LABORATORY WORKGROUP

132

Yano

Shoji

ABNORMAL NEUROTRANSMITTER METABOLISM IN PHENYLKETONURIA: SIGNIFICANCE OF URINE NEUROTRANSMITTER METABOLITES

133

Zalik

Maia

AFFECTIVE INHIBITORY CONTROL IN ADULTS WITH EARLY-TREATED PHENYLKETONURIA (PKU)