Monica H Wojcik Selected Research

Lactic Acid (Lactate)

1/2021

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.

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Monica H Wojcik Research Topics

Disease

5	Intellectual Disability (Idiocy) 01/2023 - 01/2019
4	Neurodevelopmental Disorders 01/2022 - 01/2019
3	Rare Diseases (Rare Disease) 01/2023 - 12/2018
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2023 - 01/2018
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021 - 12/2020
1	Epilepsy (Aura) 03/2023
1	Hypoxia (Hypoxemia) 01/2023
1	Infant Death 01/2023
1	Failure to Thrive 01/2023
1	Critical Illness (Critically Ill) 11/2022
1	Floating-harbor syndrome 01/2022
1	Optic Nerve Diseases (Optic Neuropathy) 01/2021
1	Optic Atrophy 01/2021
1	Neoplasms (Cancer) 12/2020
1	Carcinogenesis 12/2020
1	Neurologic Manifestations (Neurological Manifestations) 12/2020
1	Dystonia (Limb Dystonia) 11/2020
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2020
1	Phenylketonurias (Phenylketonuria) 01/2020
1	Autistic Disorder (Autism) 01/2019
1	Seizures (Absence Seizure) 01/2019
1	Char syndrome 01/2019
1	Brain Diseases (Brain Disorder) 01/2019
1	Acidosis 01/2018
1	Glutaric Acidemia I 01/2018
1	Stroke (Strokes) 01/2018
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2018
1	Ketosis 01/2018
1	Metabolic Bone Diseases (Osteopenia) 03/2010
1	Anorexia Nervosa 03/2010

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2023 - 01/2019
2	Messenger RNA (mRNA)IBA 01/2023 - 01/2020
2	Histones (Histone)IBA 12/2020 - 01/2019
2	ChromatinIBA 12/2019 - 01/2019
2	Transcription Factors (Transcription Factor)IBA 01/2019 - 01/2019
1	LysophospholipidsIBA 03/2023
1	Phosphatidylcholines (Phosphatidylcholine)IBA 03/2023
1	LipidsIBA 03/2023
1	Oxygen (Dioxygen)IBA 01/2023
1	Mixed Function Oxygenases (Monooxygenases)IBA 01/2023
1	Serotonin (5 Hydroxytryptamine)IBA 01/2023
1	Adenosine Triphosphatases (ATPase)IBA 01/2022
1	Pyruvic Acid (Pyruvate)IBA 01/2021
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2021
1	IonsIBA 01/2021
1	purineIBA 11/2020
1	EnzymesIBA 11/2020
1	Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA 01/2020
1	O-GlcNAc transferaseIBA 01/2020
1	Amino Acids FDA Link 01/2019
1	MMEIBA 12/2018
1	Beta ketothiolase deficiencyIBA 01/2018
1	2-methyl-3-hydroxybutyric acidIBA 01/2018
1	KetonesIBA 01/2018
1	Isoleucine (L-Isoleucine)FDA Link 01/2018
1	tiglylglycineIBA 01/2018
1	AcidsIBA 01/2018
1	Acetyl-CoA C-Acyltransferase (beta Ketothiolase)IBA 01/2018
1	2-methylacetoacetic acidIBA 01/2018
1	Islet Amyloid PolypeptideIBA 03/2010

Therapy/Procedure

3	Genomic Medicine 10/2023 - 01/2023
1	Critical Care (Surgical Intensive Care) 10/2023
1	Therapeutics 01/2023
1	Palliative Care (Palliative Therapy) 11/2022