BIOMAT Database Logo BIOMAT Database Logo

Incomplete Sjögren-Larsson syndrome in two Japanese siblings? 1999

M A Willemsen, and J J Rotteveel, and P M Steijlen, and R J Wanders

UI MeSH Term Description Entries
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000445 Aldehyde Oxidoreductases Oxidoreductases that are specific for ALDEHYDES. Aldehyde Oxidoreductase,Oxidoreductase, Aldehyde,Oxidoreductases, Aldehyde
D016111 Sjogren-Larsson Syndrome An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism. Congenital Icthyosis Mental Retardation Spasticity Syndrome,FALDH Deficiency,Fatty Alcohol:NAD+ Oxidoreductase Deficiency,Fatty Aldehyde Dehydrogenase Deficiency,Fatty Aldehyde Dehydrogenase Deficiency Disease,Ichthyosis Oligophrenia Syndrome,Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia,Sjögren-Larsson Syndrome,Sjogren Larsson Syndrome

Related Publications

M A Willemsen, and J J Rotteveel, and P M Steijlen, and R J Wanders
Incomplete Sjögren-Larsson syndrome in two Japanese siblings.
January 1999, Dermatology (Basel, Switzerland),
M A Willemsen, and J J Rotteveel, and P M Steijlen, and R J Wanders
Pathological findings in one of two siblings with Sjögren-Larsson Syndrome.
January 1980, European neurology,
M A Willemsen, and J J Rotteveel, and P M Steijlen, and R J Wanders
MRI of three siblings with Sjögren-Larsson syndrome.
October 1999, Pediatric radiology,
M A Willemsen, and J J Rotteveel, and P M Steijlen, and R J Wanders
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.
February 2006, Archives of neurology,
M A Willemsen, and J J Rotteveel, and P M Steijlen, and R J Wanders
[MRI study of three siblings of suspicious Sjögren-Larsson syndrome].
October 1990, Rinsho shinkeigaku = Clinical neurology,
M A Willemsen, and J J Rotteveel, and P M Steijlen, and R J Wanders
[Sjögren-Larsson syndrome].
December 1977, Annales de dermatologie et de venereologie,
M A Willemsen, and J J Rotteveel, and P M Steijlen, and R J Wanders
[Sjögren-Larsson syndrome].
January 1977, Nihon rinsho. Japanese journal of clinical medicine,
M A Willemsen, and J J Rotteveel, and P M Steijlen, and R J Wanders
[Sjögren-Larsson syndrome].
November 1973, Ugeskrift for laeger,
M A Willemsen, and J J Rotteveel, and P M Steijlen, and R J Wanders
Sjögren-Larsson syndrome.
February 2007, Developmental medicine and child neurology,
M A Willemsen, and J J Rotteveel, and P M Steijlen, and R J Wanders
[Sjögren-Larsson syndrome].
June 1982, Ceskoslovenska pediatrie,
Copied contents to your clipboard!