Gianfranco Sebastio Selected Research

Lysinuric Protein Intolerance

10/2019	Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease.
2/2011	Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
1/2008	Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
11/2006	Growth hormone deficiency in a patient with lysinuric protein intolerance.
5/2005	A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
4/2005	Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
8/2004	Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance.

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Gianfranco Sebastio Research Topics

Disease

7	Lysinuric Protein Intolerance 10/2019 - 08/2004
2	Hyperammonemia 10/2019 - 02/2011
1	Pyridoxine-Responsive Homocystinuria 03/2007
1	Homocystinuria 03/2007
1	Hypothyroidism 03/2007
1	Failure to Thrive 11/2006
1	Osteoporosis 11/2006
1	Coma (Comas) 11/2006
1	Down Syndrome (Down's Syndrome) 07/2006
1	Coloboma (Colobomas) 01/2006
1	Chromosome Aberrations (Chromosome Abnormalities) 01/2006
1	Pulmonary Alveolar Proteinosis 08/2004
1	Spinal Dysraphism (Spina Bifida) 05/2002

Drug/Important Bio-Agent (IBA)

6	Amino Acids FDA Link 10/2019 - 04/2005
2	CitrullineIBA 10/2019 - 02/2011
2	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 03/2007 - 07/2006
2	Folic Acid (Vitamin M)FDA LinkGeneric 07/2006 - 05/2002
1	Carnitine (L-Carnitine)FDA LinkGeneric 02/2011
1	Lysine (L-Lysine)FDA Link 02/2011
1	NitrogenIBA 02/2011
1	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 03/2007
1	Growth Hormone (Somatotropin)IBA 11/2006
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 07/2006
1	5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase (Methyltetrahydrofolate Homocysteine Methyltransferase)IBA 07/2006
1	methionine synthase reductaseIBA 07/2006
1	HomocysteineIBA 07/2006
1	Retinal Pigments (Pigments, Visual)IBA 01/2006
1	TeratogensIBA 01/2006
1	Mutant Proteins (Protein, Mutant)IBA 05/2005
1	Oxidoreductases (Dehydrogenase)IBA 05/2002
1	5,10-methylenetetrahydrofolic acidIBA 05/2002

Therapy/Procedure

1	Protein-Restricted Diet (Diet, Protein Restricted) 02/2011
1	Therapeutics 02/2011
1	Heart-Lung Transplantation 08/2004