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Lathosterolosis
A Defective Response to Hedgehog Signaling in Disorders of Cholesterol Biosynthesis
Table S1. Disease Classification and Disease-Reaction Association
(12) Patent Application Publication (10) Pub. No.: US 2010/0210567 A1 Bevec (43) Pub
Steroidal Triterpenes of Cholesterol Synthesis
GC-MS As a Tool for Reliable Non-Invasive Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome but Essential Also for Other Cholesterolopathies Verification
Smith–Lemli–Opitz Syndrome: Pathogenesis, Diagnosis and Management
Download CGT Exome V2.0
WES Gene Package Multiple Congenital Anomalie.Xlsx
Smith-Lemli-Opitz Syndrome
Mutations in the Human SC4MOL Gene Encoding a Methyl Sterol Oxidase Cause Psoriasiform Dermatitis, Microcephaly, and Developmental Delay
30 Inborn Errors of Cholesterol Biosynthesis Dorothea Haas, Richard I
REVIEW Neuroprotective Effects of the Alzheimer's Disease-Related Gene Seladin-1
Cholesterol in Childhood: Friend Or Foe?
And Mevalonate Kinase Deficiency Linda Henneman Uitnod Lind
Lipid Metabolism Fattens up Hedgehog Signaling Robert Blassberg1 and John Jacob2,3,4*
Elenco Dei Geni Analizzati E Malattie Genetiche Investigate
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
Disorders of Sterol Biosynthesis
Top View
Malformation Syndromes Caused by Disorders of Cholesterol Synthesis
Uva-DARE (Digital Academic Repository)
Metabolism and Biological Activities of 4-Methyl-Sterols
Cholesterol Biosynthesis in the Nervous System with an Emphasis on Desmosterolosis
Rare Disease Registries in Europe
Metabolske Sykdommer V02
Cholesterol Precursors and Facial Clefting
Draft ABMG Clinical Biochemical Genetics Examination Outline
Table S4. Disease Prevalence
Physician's Guide to the Diagnosis, Treatment, and Follow-Up Of
Individual Genome Sequence Gene List (By Disease)
Forbes Porter, MD, Phd (NICHD)
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
ABMGG Biochemical Genetics Blueprint and Content Codes (Effective August 2019)
Indices Disorders Index
Novel Functions of Hydroxysteroid (17B) Dehydrogenases As Revealed by Genetically Modified Mouse Models
Recessive Gene List V2.0
Disease ID Disorder Name Gene Symbols OMIM ID