Massimiliano Rossi Selected Research

Lathosterolosis

7/2015	Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
10/2007	Clinical phenotype of lathosterolosis.
1/2005	Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.
10/2002	Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

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Massimiliano Rossi Research Topics

Disease

4	Chondrodysplasia Punctata (Stippled Epiphyses) 01/2022 - 01/2005
4	Lathosterolosis 07/2015 - 10/2002
3	Epilepsy (Aura) 12/2021 - 06/2018
3	Autoimmune Diseases (Autoimmune Disease) 01/2020 - 07/2015
3	Intellectual Disability (Idiocy) 01/2017 - 10/2002
3	Muscular Diseases (Myopathy) 05/2007 - 03/2007
3	Glycogen Storage Disease Type II (Pompe's Disease) 05/2007 - 03/2007
2	Brachytelephalangic Chondrodysplasia Punctata 01/2022 - 07/2015
2	Neurodevelopmental Disorders 12/2021 - 01/2017
2	Brain Diseases (Brain Disorder) 12/2021 - 01/2017
2	Hypertension (High Blood Pressure) 01/2019 - 03/2003
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2016 - 07/2015
2	Peroxisomal Disorders (Peroxisomal Disorder) 01/2016 - 07/2015
2	Desmosterolosis 07/2015 - 01/2005
2	HEM dysplasia 07/2015 - 01/2005
2	Smith-Lemli-Opitz Syndrome 07/2002 - 01/2002
1	Achondroplasia 01/2022
1	Neoplasms (Cancer) 06/2021
1	Autism Spectrum Disorder 01/2020
1	Spasm (Spasms) 01/2019
1	Williams Syndrome (Williams-Beuren Syndrome) 01/2019
1	Vascular Malformations 01/2019
1	Hypertrophy 01/2019
1	Short Rib-Polydactyly Syndrome 01/2018
1	Microcephaly 01/2018
1	Penis agenesis 03/2017
1	Hypospadias 03/2017
1	Cryptorchidism (Undescended Testes) 03/2017
1	Movement Disorders (Movement Disorder) 01/2017
1	Transaldolase Deficiency 01/2016
1	Arterial calcification of infancy 01/2016
1	Hypophosphatasia 01/2016
1	Glycogen Storage Disease Type IV (Andersen's Disease) 01/2016
1	Molybdenum cofactor deficiency 01/2016
1	X-Linked Chondrodysplasia Punctata 1 01/2016
1	Pyruvate Carboxylase Deficiency Disease 01/2016
1	Pyruvate Dehydrogenase Complex Deficiency Disease 01/2016
1	Nonketotic Hyperglycinemia 01/2016
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2016
1	Congenital Abnormalities (Deformity) 07/2015
1	Rhizomelic Chondrodysplasia Punctata 07/2015
1	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 07/2015
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 07/2015
1	Chromosome Aberrations (Chromosome Abnormalities) 07/2015
1	Antley-Bixler Syndrome Phenotype 07/2015
1	Hypertelorism 03/2015
1	Coloboma (Colobomas) 03/2015
1	Cerebrofrontofacial Syndrome 03/2015
1	Deafness (Deaf Mutism) 03/2015
1	Joint Instability (Joint Laxity) 12/2011
1	Type 2 Diabetes Mellitus (MODY) 11/2008
1	Coronary Disease (Coronary Heart Disease) 11/2008
1	Cardiomyopathies (Cardiomyopathy) 05/2007

Drug/Important Bio-Agent (IBA)

5	CholesterolIBA 01/2016 - 03/2003
4	EnzymesIBA 01/2018 - 03/2007
2	Cytidine Diphosphate (CDP)IBA 01/2022 - 11/2015
2	Vitamin K FDA Link 01/2022 - 07/2015
2	Proteins (Proteins, Gene)FDA Link 12/2021 - 01/2018
2	Biological ProductsIBA 01/2020 - 01/2019
2	alpha-Glucosidases (Acid Maltase)IBA 05/2007 - 03/2007
2	GlycogenIBA 03/2007 - 03/2007
2	HydrolasesIBA 03/2007 - 03/2007
2	miglustat (Zavesca)FDA Link 03/2007 - 03/2007
2	Imino SugarsIBA 03/2007 - 03/2007
1	Tyrosine Kinase InhibitorsIBA 01/2022
1	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 01/2022
1	infigratinibIBA 01/2022
1	Blood Coagulation Factors (Coagulation Factor)IBA 01/2022
1	SodiumIBA 12/2021
1	Potassium Channels (Potassium Channel)IBA 12/2021
1	NADP (NADPH)IBA 12/2021
1	FlavonoidsIBA 06/2021
1	Transcription Factors (Transcription Factor)IBA 01/2020
1	Minoxidil (Rogaine)FDA LinkGeneric 01/2019
1	ElastinIBA 01/2019
1	Vigabatrin FDA Link 01/2019
1	Pharmaceutical PreparationsIBA 06/2018
1	Phospholipids (Phosphatides)FDA LinkGeneric 01/2018
1	Hormones (Hormone)IBA 03/2017
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2017
1	Glutamine (L-Glutamine)FDA Link 01/2016
1	Aspartate-Ammonia Ligase (Asparagine Synthetase)IBA 01/2016
1	Serine (L-Serine)FDA Link 01/2016
1	Sulfite OxidaseIBA 01/2016
1	A 7 (A-7)IBA 11/2015
1	AntibodiesIBA 11/2015
1	SqualeneIBA 07/2015
1	SterolsIBA 07/2015
1	emopamil (levemopamil)IBA 07/2015
1	Carrier Proteins (Binding Protein)IBA 07/2015
1	Actins (F Actin)IBA 03/2015
1	Retinaldehyde (Retinal)IBA 03/2015
1	KinesinsIBA 12/2011
1	Adenosine (Adenocard)FDA LinkGeneric 11/2008
1	AcidsIBA 05/2007
1	GlucosidasesIBA 03/2007

Therapy/Procedure

5	Therapeutics 01/2022 - 03/2007
1	Ketogenic Diet 01/2019
1	Sutures (Suture) 03/2015
1	Enzyme Replacement Therapy 05/2007