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2-Aminoadipic Acid
3
2-Aminoadipic Semialdehyde Synthase Inhibition
1
22q11 Deletion Syndrome
1
3-Hydroxyacyl CoA Dehydrogenases
1
6-Hydroxy-Pipecolate
1
6-Oxo-Pipecolate
2
6‐oxo‐pipecolic Acid
1
Absorptiometry
1
Access
1
Acetyl-CoA C-Acetyltransferase
1
Acidosis
3
Activities of Daily Living
1
Acyl Coenzyme A
1
Acyl-CoA Dehydrogenase
2
Adolescent
6
Adult
3
Adults
1
Age of Onset
1
AI
1
Aldehyde Dehydrogenase
8
ALDH7A1
5
ALDH7A1 Deficiency
1
Alleles
2
Alpers Syndrome
1
Alpha Aminoadipic Semialdehyde
4
Amino Acid Metabolism
3
Amino Acid Sequence
3
Amino Acid Substitution
1
Amino Acids
1
Amino Acyl-TRNA Synthetases
1
Aminoacyl-TRNA Synthetases
1
Aminoacylation
1
Aminoadipic Semialdehyde
1
Aminomethyltransferase
1
Anemia
1
Animals
3
Anticonvulsants
1
Antiquitin
2
Arginine
2
Arginine Supplementation
2
Asian People
1
Atrophy
1
Autopsy
1
B6 Vitamer
1
Bariatric Surgery
1
Base Sequence
1
Binding Sites
1
Bioethics
1
Biology
1
Biomarkers
3
Bone Density
1
Bone Mineral Density
1
Brain
2
Brain Diseases
4
Brain Magnetic Resonance Imaging
1
CADRe
1
Cardiomyopathies
1
CARS2
1
Cell Line
1
Cell Respiration
1
Cerebral Cortex
1
Cerebrospinal Fluid
1
CGH
1
Child
17
Child Development
1
Child Nutritional Physiological Phenomena
1
Chlorocebus Aethiops
1
Chromatography
1
Chromosomal Instability
1
Chromosome Breakpoints
1
Chromosome Deletion
1
Chromosome Disorders
1
Chromosome Mapping
1
Chromosomes
4
ClinGen
1
Clinical Competence
1
Clinical Reasoning
1
Clinical Trials
1
CNV
1
Cobalamin Metabolism
1
Cognition
3
Cohort Studies
2
Color
1
Colorado
1
Combination
1
Communication
2
Community Engagement
2
Comparative Genomic Hybridization
1
Complex IV
1
Computer Vision
1
Confidentiality
1
Congenital
1
Congenital Bone Marrow Failure Syndromes
1
Consensus
1
Consensus Guidelines
1
Copy Number Variation
1
Corpus Callosum
1
COS Cells
1
Counselors
1
Craniofacial Abnormalities
1
Crispr
2
Cross-Sectional Studies
2
CurePDE
1
Cystinuria
1
Decision Making
1
Deep Learning
1
Delayed Diagnosis
1
Development
1
Developmental Disabilities
1
Dextromethorphan
1
Diagnosis
1
Diet
3
Diet Therapy
2
Dietary Proteins
1
Dietary Supplements
2
Differential
1
Diffusion Magnetic Resonance Imaging
1
Diffusion Restriction
1
Dihydrolipoamide Dehydrogenase
1
Disclosure
4
Disease Mechanism
1
Disease Mechanisms
3
DNA
1
DNA Mutational Analysis
4
Doppler
1
Drug Industry
1
Drug Therapy
1
Dual Energy X-Ray Absorptiometry
1
Dyskinesias
1
Ear
1
Early Diagnosis
1
Educational Status
1
Electron Transport
1
Electron Transport Complex I
1
Electron Transport Complex IV
1
ELSI
1
Energy Metabolism
1
Enoyl-CoA Hydratase
1
Epilepsy
16
Epileptic Encephalopathy
1
Ethics
8
Evolution
1
Excitatory Amino Acid Antagonists
1
Exome
1
Exome Sequencing
1
Exons
1
False Negative Reactions
1
Family
1
Fatal Outcome
4
Female
22
Fluorescence
1
Fun
1
GA1
3
GABA-A
1
GABRA1
1
Gene Expression
2
Gene Expression Regulation
1
Gene Knockdown Techniques
2
Genes
1
Genetic
1
Genetic Association Studies
2
Genetic Counseling
6
Genetic Diseases
2
Genetic Predisposition to Disease
2
Genetic Testing
7
Genetic Variation
1
Genetics
2
Genome Mapping
1
Genome-Wide Association Study
1
Genomic
1
Genomic Disorders
1
Genomic Structural Variation
1
Genomic Testing
1
Genomics
1
Genotype
2
Glutarates
1
Glutaredoxins
1
Glutaric Acidemia Type 1
1
Glutaric Aciduria Type 1
1
Glutaryl-CoA Dehydrogenase
2
Glycine
3
Glycine Decarboxylase Complex
1
Glycine Dehydrogenase (Decarboxylating)
1
Graphs
1
HCU
1
Health Personnel
1
Heart Defects
1
HEK293 Cells
1
Heterozygote
3
Hirschsprung Disease
1
Homocysteine
1
Homocystinuria
1
Homozygote
1
Host Cell Factor C1
1
HSD10 Disease
1
Human
4
Humans
46
Hydrogen Sulfide
1
Hyperammonemia
2
Hyperglycinemia
6
Hyperhomocysteinemia
1
Hypoglycemia
2
IEM
1
In Situ Hybridization
1
Inborn
2
Inborn Errors
7
Inborn Errors of Metabolism
1
Infant
25
Infant Nutrition Disorders
1
Infant Nutritional Physiological Phenomena
1
Informed Consent
5
Intellectual and Developmental Disabilities
1
Intellectual Disability
4
Intelligence Tests
1
International Cooperation
1
Introns
1
Iron-Sulphur Cluster
1
Justice
1
Kidney
1
Kinetics
1
Lactic
3
Language
1
Large Language Models
2
Larva
1
Lecture
2
Leigh Disease
2
Leukodystrophy
1
Leukoencephalopathy
1
Lipid Metabolism
2
Lipoic Acid
1
Liquid
1
Liver
3
Locomotion
1
Long-Chain
2
Longitudinal Studies
1
Lumbar Vertebrae
1
Lysine
9
Lysine Biochemistry
1
Lysine Catabolism
1
Lysine Reduction Therapies
2
Lysine-Restricted
1
Lysine-Restricted Diet
1
Lysine-Restriction
1
Magnetic Resonance Imaging
4
Magnetic Resonance Spectroscopy
1
Male
25
Management
1
Markdown
1
Megaloblastic
1
Mental Disorders
1
Messenger
1
Metabolic
2
Metabolic Epilepies
1
Metabolic Epilepsy
2
Metal Metabolism
1
Methionine
1
Methylmalonic Acid
1
Methylmalonic Acidemia
1
MHBD Disease
1
Microarray
1
Microcephaly
1
Middle Aged
1
Mild
1
Missense
4
Mitochondria
2
Mitochondrial
2
Mitochondrial Diseases
1
Mitochondrial Membrane Transport Proteins
1
Mitochondrial Precursor Protein Import Complex Proteins
1
Mitochondrial Proteins
1
Mitochondrial Translation
1
Molecular
1
Molecular Sequence Data
2
Molybdoferredoxin
1
MONDO
1
Morbid
1
Mosaicism
1
Motor Activity
1
Motor Disorders
1
Mouse Model
1
MRI
1
MRPP2
1
Multienzyme Complexes
1
Muscles
1
Muscular Diseases
1
Mutation
11
Myocardium
1
NADH Dehydrogenase
1
National Institutes of Health
1
Natural History
1
Neonatal Encephalopathy
1
Neonatal Screening
3
Neonatal Seizures
1
Neurodevelopmental Disorders
1
Neurodevelopmental Outcome
1
Neurological Outcome
1
Neuropsychological Tests
1
Newborn
18
Newborn Screening
2
Newsletter
1
NLP
1
Nonketotic
6
Nonketotic Hyperglycinemia
2
Nucleic Acid
1
Nutrition
1
Obesity
1
Oligonucleotide Array Sequence Analysis
1
Organic Acidemia
1
Organic Aciduria
1
Ornithine Carbamoyltransferase Deficiency Disease
1
Orotate Phosphoribosyltransferase
1
Orotic Acid
1
Orotidine-5'-Phosphate Decarboxylase
1
Orphan Drug Production
1
Osteoporosis
1
Oxidation-Reduction
1
Oxidoreductases Acting on Sulfur Group Donors
1
Pair 15
1
Pair 16
2
Pair 22
1
Patient-Reported Outcomes
1
PDE
2
PDE-ALDH7A1
18
PDE‐ALDH7A1
1
Pediatric Ethics
1
Pediatrics
1
Penicillamine
1
Persons With Disabilities
1
Pharmaceuticals
1
Phenotype
6
Phenotypic Outcome
1
Photon
1
Pipecolic Acids
3
Piperideine‐6‐carboxylate
1
PLPBP
1
PNPO
1
Podcast
6
Polymorphism
1
Portal Vein
1
Post-Transcriptional
1
Practice Guidelines as Topic
2
Precision Medicine
1
Predictive Value of Tests
1
Preschool
13
Primary Health Care
1
Primates
1
Principles
1
Prognosis
1
PROMIS
1
Propionic Acidemia
1
Prospective Studies
1
Protein
1
Protein Binding
1
Protein Structure
1
Protein Subunits
1
Proteins
1
Proteomics
1
Public-Private Sector Partnerships
1
Purine-Pyrimidine Metabolism
1
Pyridoxine
9
Pyridoxine-Dependent Epilepsy
6
Pyridoxine-Responsive Seizures
1
Pyridoxine‐dependent Epilepsy
2
Pyrimidines
1
Pyruvate Dehydrogenase (Lipoamide)
1
Pyruvate Dehydrogenase Complex Deficiency Disease
1
Quinone Reductases
1
Rare Disease Studies
3
Rare Diseases
2
Receptors
1
Recommended Dietary Allowances
1
Refractory Seizures
1
Repetitive Sequences
1
Repressor Proteins
1
Reserach
1
Restricted Diffusion
1
Restrictive Cardiomyopathy
1
Results Disclosure
2
Retrospective Studies
5
Return of Results
1
Risk Factors
1
RNA
2
RNA Processing
1
RNase P
1
Rubric
1
Secondary
1
Segmental Duplications
1
Seizures
4
Sequence Alignment
1
Sequence Deletion
1
Service Delivery
1
Severe Short Stature
1
Severity of Illness Index
1
Sibling Study
1
Siblings
1
Single Nucleotide
1
Single Nucleotide Polymorphism
1
Small Interfering
1
SNP
1
Sodium Benzoate
1
Source Themes
1
Spectrum Analysis
1
Structural Variation
1
Students
1
Sudden Infant Death
2
Sulfide:quinone Oxidoreductase
1
Sulfurtransferases
1
Surveys and Questionnaires
1
Systems Biology
1
Tandem Mass Spectrometry
1
Therapeutic Advances
3
Therapeutics
1
Therapy
1
Time-to-Treatment
1
Tomography
1
Transcription
1
Transfer
1
Treatment
2
Tryptophan
1
Ultrasonography
1
United States
3
Urea Cycle Disorders
3
Uridine
1
Urinary Calculi
1
Urinary Tract
1
Vascular Malformations
1
Vitamin B 12
1
Vitamin B 12 Deficiency
1
Vitamin B Complex
2
Vitamin B6
2
Weight Loss
1
White Matter
1
Williams Syndrome
1
X
1
X-Linked
2
X-Linked Intellectual Disability
1
X-Ray Computed
1
Young Adult
2
Zebrafish
1