Manuel Schiff Selected Research

Manuel Schiff Research Topics

Disease

7	Methylenetetrahydrofolate reductase deficiency 01/2022 - 02/2011
6	Maple Syrup Urine Disease 03/2023 - 01/2017
6	Epilepsy (Aura) 01/2021 - 01/2016
5	Inborn Urea Cycle Disorders 01/2023 - 01/2016
4	Hyperammonemia 02/2024 - 08/2005
4	Cardiomyopathies (Cardiomyopathy) 06/2023 - 12/2017
4	Tyrosinemias (Tyrosinemia) 12/2022 - 09/2012
4	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 09/2012
4	Homocystinuria 01/2022 - 12/2012
3	Muscle Hypotonia (Hypotonia) 02/2024 - 01/2016
3	Methylmalonic acidemia 01/2022 - 02/2011
3	Brain Diseases (Brain Disorder) 01/2022 - 01/2016
3	Intellectual Disability (Idiocy) 01/2021 - 01/2016
3	Seizures (Absence Seizure) 01/2021 - 01/2021
3	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021 - 12/2017
3	Disease Progression 12/2017 - 04/2006
2	Ataxia (Dyssynergia) 02/2024 - 01/2016
2	Hyperhomocysteinemia 02/2024 - 11/2022
2	Hypoglycemia (Reactive Hypoglycemia) 11/2023 - 11/2020
2	Inborn Genetic Diseases (Disease, Hereditary) 06/2023 - 01/2021
2	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 01/2021 - 01/2017
2	Hepatomegaly 01/2021 - 11/2020
2	Metabolic Diseases (Metabolic Disease) 11/2020 - 09/2016
2	Thrombosis (Thrombus) 11/2020 - 01/2017
2	Portal Hypertension 11/2020 - 12/2017
2	Phenylketonurias (Phenylketonuria) 09/2019 - 01/2017
2	Lactic Acidosis 01/2018 - 06/2016
2	Niemann-Pick Diseases (Niemann Pick Disease) 11/2017 - 01/2016
2	Microcephaly 07/2017 - 01/2016
2	Ketosis 01/2017 - 08/2013
2	Hyperargininemia 09/2016 - 01/2016
2	3-Methylglutaconic Aciduria 06/2016 - 01/2011
2	Bone Marrow Failure Disorders 09/2012 - 06/2010
2	Pyruvate Dehydrogenase Complex Deficiency Disease 09/2006 - 04/2006
1	Hemolytic Anemia 05/2024
1	Pancytopenia 05/2024
1	Rare Diseases (Rare Disease) 05/2024
1	Renal Tubular Acidosis (Distal Renal Tubular Acidosis) 04/2024
1	Glut1 Deficiency Syndrome 04/2024
1	Hyperlactatemia 02/2024
1	Hearing Loss (Hearing Impairment) 11/2023
1	Glycogen Storage Disease Type II (Pompe's Disease) 08/2023
1	2-Hydroxyglutaricaciduria 06/2023
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 06/2023
1	Mucopolysaccharidosis I (Hurler Syndrome) 01/2023

Drug/Important Bio-Agent (IBA)

9	EnzymesIBA 06/2023 - 01/2016
9	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 11/2022 - 09/2012
9	HomocysteineIBA 01/2022 - 06/2010
8	Methionine (L-Methionine)FDA Link 01/2022 - 06/2010
7	Oxidoreductases (Dehydrogenase)IBA 03/2023 - 06/2006
7	Proteins (Proteins, Gene)FDA Link 08/2021 - 05/2013
6	Betaine (C.B.B.)FDA Link 11/2022 - 02/2011
5	Branched-Chain Amino AcidsIBA 03/2023 - 01/2017
4	Methylmalonic AcidIBA 02/2024 - 06/2010
4	AcidsIBA 03/2023 - 01/2016
4	Fatty Acids (Saturated Fatty Acids)IBA 01/2022 - 12/2016
3	Hydroxocobalamin FDA Link 05/2024 - 02/2011
3	Urea (Carbamide)FDA LinkGeneric 01/2023 - 09/2016
3	Amino Acids FDA Link 01/2023 - 05/2012
3	Phenylalanine (L-Phenylalanine)FDA Link 12/2022 - 09/2019
3	Pyridoxine (Pyridoxin)FDA LinkGeneric 11/2022 - 10/2020
3	phosphomannomutaseIBA 01/2021 - 12/2017
2	methionine synthase reductaseIBA 05/2024 - 02/2011
2	Transaminases (Aminotransferases)IBA 04/2024 - 12/2017
2	Lactic Acid (Lactate)FDA LinkGeneric 04/2024 - 06/2016
2	Riboflavin (Vitamin B2)FDA LinkGeneric 02/2024 - 06/2016
2	Arginine (L-Arginine)FDA Link 01/2023 - 05/2012
2	AmmoniaIBA 01/2023 - 01/2022
2	Tyrosine (L-Tyrosine)FDA Link 12/2022 - 09/2012
2	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 11/2022 - 01/2022
2	5,10-methylenetetrahydrofolic acidIBA 01/2022 - 02/2011
2	VitaminsIBA 01/2022 - 01/2021
2	Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA 01/2021 - 10/2020
2	Phosphates (Orthophosphate)IBA 01/2021 - 11/2020
2	Congenital disorder of glycosylation type 1AIBA 01/2021 - 12/2017
2	Ammonium CompoundsIBA 07/2018 - 01/2016
2	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 11/2017 - 01/2016
2	LyasesIBA 09/2016 - 01/2016
2	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 01/2016 - 12/2012
2	CystathionineIBA 04/2015 - 12/2012
2	Folic Acid (Vitamin M)FDA LinkGeneric 12/2012 - 02/2011
2	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 09/2006 - 04/2006
1	BilirubinIBA 05/2024
1	HaptoglobinsIBA 05/2024
1	Vigabatrin FDA Link 04/2024
1	Valproic Acid (Depakote)FDA LinkGeneric 04/2024
1	Aminobutyrates (Aminobutyric Acid)IBA 04/2024
1	Topiramate (Topamax)FDA LinkGeneric 04/2024
1	Biomarkers (Surrogate Marker)IBA 04/2024
1	Thiamine (Aneurin)FDA Link 02/2024
1	ribosomal protein S2IBA 11/2023
1	LipidsIBA 06/2023
1	Enzyme Inhibitors (Inhibitors, Enzyme)IBA 06/2023
1	Phospholipids (Phosphatides)FDA LinkGeneric 06/2023
1	enasidenibIBA 06/2023
1	Isocitrate Dehydrogenase (Isocitrate Dehydrogenase (NAD+))IBA 06/2023
1	Iduronidase (alpha-L-Iduronidase)IBA 01/2023

Therapy/Procedure

10	Therapeutics 06/2023 - 09/2012
2	Kidney Transplantation 01/2020 - 11/2005
1	Enzyme Replacement Therapy 08/2023