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Enrico Zammarchi Selected Research

succinylacetone

1/2011Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.
12/2009The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.
1/2008The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.

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Enrico Zammarchi Research Topics

Disease

3Tyrosinemias (Tyrosinemia)
01/2011 - 01/2008
3GM1 Gangliosidosis (Gangliosidosis GM1)
02/2007 - 07/2003
2Fabry Disease (Fabry's Disease)
11/2008 - 10/2004
2Acidosis
10/2006 - 03/2002
2Congenital Hypothyroidism (Cretinism)
01/2004 - 11/2003
1Inborn Genetic Diseases (Disease, Hereditary)
01/2011
1Fructose Intolerance (Intolerance, Fructose)
02/2008
1Holocarboxylase Synthetase Deficiency
12/2005
1Infections
08/2005
1Neutropenia
08/2005
1Heart Failure
10/2004
1Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
06/2004
1Combined Pituitary Hormone Deficiency
11/2003
1Malignant Hyperthermia
02/2003
1Hypokalemic Periodic Paralysis (Periodic Paralysis, Hypokalemic)
02/2003
1Medium chain acyl CoA dehydrogenase deficiency
01/2003
1Inborn Urea Cycle Disorders
01/2003
1Lactic Acidosis
03/2002
1Ketosis
03/2002
1Pyruvate Carboxylase Deficiency Disease
03/2002

Drug/Important Bio-Agent (IBA)

3succinylacetoneIBA
01/2011 - 01/2008
3EnzymesIBA
11/2008 - 10/2004
2alpha-Galactosidase (Beano)IBA
11/2008 - 10/2004
2AcidsIBA
01/2008 - 03/2002
2Proteins (Proteins, Gene)FDA Link
02/2007 - 08/2005
1Tyrosine (L-Tyrosine)FDA Link
01/2011
1HydrolasesIBA
11/2008
1GlycosphingolipidsIBA
11/2008
1Fructose-Bisphosphate Aldolase (Aldolase)IBA
02/2008
1Amino AcidsFDA Link
01/2008
1SolutionsIBA
01/2008
1Messenger RNA (mRNA)IBA
02/2007
1Transaminases (Aminotransferases)IBA
10/2006
1Ligases (Synthetase)IBA
12/2005
1Granulocyte Colony-Stimulating Factor (G-CSF)IBA
08/2005
1beta-Galactosidase (Lactaid)IBA
01/2005
1SulfatasesIBA
06/2004
1Dopamine (Intropin)FDA LinkGeneric
01/2004
1ProlactinIBA
11/2003
1dimemorfan (AT 17)IBA
07/2003
1Calcium Channels (Calcium Channel)IBA
02/2003
1Anesthetics (Anesthetic Agents)IBA
02/2003
11,4-dihydropyridine (dihydropyridine)IBA
02/2003
1Orotic AcidIBA
01/2003
1Oxidoreductases (Dehydrogenase)IBA
01/2003
1Citric Acid (Citrate)FDA LinkGeneric
03/2002
1Lactic Acid (Lactate)FDA LinkGeneric
03/2002
13-Hydroxybutyric Acid (beta-Hydroxybutyric Acid)IBA
03/2002
1Acetazolamide (Diamox)FDA LinkGeneric
03/2002
1acetoacetic acid (acetoacetate)IBA
03/2002
1Carbonic Anhydrase InhibitorsIBA
03/2002
1Pyruvic Acid (Pyruvate)IBA
03/2002

Therapy/Procedure

1Enzyme Replacement Therapy
10/2004
1Therapeutics
03/2002
1Blood Transfusion (Blood Transfusions)
03/2002
1Aftercare (After-Treatment)
03/2002
1Erythrocyte Transfusion
03/2002