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David Valle Selected Research

Strudwick syndrome

1/2018Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
1/2015An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

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David Valle Research Topics

Disease

3Gyrate Atrophy
06/2022 - 02/2002
3Schizophrenia (Dementia Praecox)
11/2014 - 11/2008
2Hyperammonemia
06/2022 - 01/2022
2Retinal Degeneration
06/2022 - 02/2013
2Developmental Bone Diseases (Bone Dysplasia)
01/2018 - 01/2015
2Strudwick syndrome
01/2018 - 01/2015
2Psychotic Disorders (Schizoaffective Disorder)
07/2016 - 03/2011
1Brain Diseases (Brain Disorder)
06/2022
1Inborn Urea Cycle Disorders
06/2022
1Myopia
06/2022
1Respiratory Syncytial Virus Infections
01/2019
1Neutropenia
01/2019
1Transaldolase Deficiency
01/2019
1Rare Diseases (Rare Disease)
01/2019
1Liver Failure
01/2019
1Thrombocytopenia (Thrombopenia)
01/2019
1Splenomegaly
01/2019
1Hereditary Corneal Dystrophies
01/2018
1Kabuki syndrome
12/2017
1Mental Disorders (Mental Disorder)
01/2017
1Laminopathies
01/2017
1Muscular Dystrophies (Muscular Dystrophy)
01/2017
1Type 2 Diabetes Mellitus (MODY)
01/2017
1Insulin Resistance
01/2017
1Lipodystrophy
01/2017
1familial dilated cardiomyopathy
01/2017
1Progeria (Hutchinson Gilford Syndrome)
01/2017
1Acidosis
01/2016
1Intellectual Disability (Idiocy)
01/2016
1Hypoglycemia (Reactive Hypoglycemia)
01/2016
1Liver Diseases (Liver Disease)
01/2015
1type 6 Osteogenesis imperfecta
12/2014
1Chronic Kidney Failure (Chronic Renal Failure)
11/2014
1Methylmalonic acidemia
11/2014
1Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
01/2014
1Autistic Disorder (Autism)
03/2011
1Metachondromatosis
06/2010
1Deafness (Deaf Mutism)
03/2010
124 Autosomal Recessive Deafness
03/2010
1Hearing Loss (Hearing Impairment)
03/2010
1Cognitive Dysfunction
11/2007
1Colonic Neoplasms (Colon Cancer)
08/2007
1X-Linked Mental Retardation (Mental Retardation, X Linked)
05/2007
1Colorectal Neoplasms (Colorectal Cancer)
01/2007
1Restrictive Cardiomyopathy
05/2006
1Genetic Predisposition to Disease (Genetic Predisposition)
12/2005

Drug/Important Bio-Agent (IBA)

4Arginine (L-Arginine)FDA Link
06/2022 - 02/2002
4OrnithineIBA
06/2022 - 02/2002
4EnzymesIBA
12/2017 - 06/2002
4Proteins (Proteins, Gene)FDA Link
01/2017 - 06/2002
3MicroRNAs (MicroRNA)IBA
02/2013 - 08/2007
3Proline (L-Proline)FDA Link
11/2008 - 01/2005
2CitrullineIBA
06/2022 - 01/2005
2NeuregulinsIBA
07/2016 - 01/2009
2Membrane Proteins (Integral Membrane Proteins)IBA
06/2005 - 06/2002
1Orotic AcidIBA
06/2022
1AmmoniaIBA
06/2022
1ornithine transporter (ornithine translocase)IBA
06/2022
1homocitrullineIBA
06/2022
1Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA
06/2022
1Urea (Carbamide)FDA LinkGeneric
01/2022
1alpha-Fetoproteins (alpha-Fetoprotein)IBA
01/2019
1Acetaminophen (Paracetamol)FDA LinkGeneric
01/2019
1AntioxidantsIBA
01/2019
1Acetylcysteine (Siran)FDA LinkGeneric
01/2019
1TransaldolaseIBA
01/2019
1Phospholipids (Phosphatides)FDA LinkGeneric
01/2018
1Phosphatidylinositols (Phosphatidylinositol)IBA
01/2018
1Histones (Histone)IBA
12/2017
1prelamin AIBA
01/2017
1LaminsIBA
01/2017
1Intermediate Filament ProteinsIBA
01/2017
1Biological ProductsIBA
07/2016
13-Hydroxy-3-Methylglutaryl-CoA Lyase DeficiencyIBA
01/2016
1AcidsIBA
01/2015
1Lamin B ReceptorIBA
01/2015
1SerpinsIBA
12/2014
1Glycoproteins (Glycoprotein)IBA
12/2014
1TOR Serine-Threonine KinasesIBA
11/2014
1Protein Isoforms (Isoforms)IBA
11/2014
1Methylmalonic AcidIBA
11/2014
1Phosphatidylcholines (Phosphatidylcholine)IBA
01/2014
1Glutamate Receptors (Glutamate Receptor)IBA
03/2011
1Pharmaceutical PreparationsIBA
03/2011
1Nonsense Codon (Nonsense Mutation)IBA
06/2010
13' Untranslated Regions (3' UTR)IBA
03/2010
1cyclonite (RDX)IBA
03/2010
1AMPA Receptors (AMPA Receptor)IBA
11/2007
1MethyltransferasesIBA
08/2007
1DNA (Deoxyribonucleic Acid)IBA
08/2007
1Complementary DNA (cDNA)IBA
05/2007
1Reactive Oxygen Species (Oxygen Radicals)IBA
01/2007
1Troponin T (Troponin T1)IBA
05/2006
1Glutamic Acid (Glutamate)FDA Link
12/2005

Therapy/Procedure

2Liver Transplantation
01/2015 - 11/2014
1Protein-Restricted Diet (Diet, Protein Restricted)
06/2022
1Precision Medicine
01/2019
1Transplantation
01/2015
1Renal Dialysis (Hemodialysis)
11/2014
1Kidney Transplantation
11/2014