BIOMAT Database Logo BIOMAT Database Logo

[Sjögren-Larsson syndrome: lamellar ichthyosis, mental retardation and spasticity (author's transl)]. 1974

R Ruiz Maldonado, and L Tamayo, and A Carnevale, and A López, and L Peña

UI MeSH Term Description Entries
D007057 Ichthyosis Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. Xeroderma,Ichthyoses,Xerodermas
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D005260 Female Females
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

Related Publications

R Ruiz Maldonado, and L Tamayo, and A Carnevale, and A López, and L Peña
Congenital ichthyosis, mental retardation and spasticity (Sjogren-Larsson syndrome).
May 1962, Canadian Medical Association journal,
R Ruiz Maldonado, and L Tamayo, and A Carnevale, and A López, and L Peña
Neuropathological correlation in Sjögren-Larsson syndrome. Oligophrenia, ichthyosis and spasticity.
December 1974, Brain : a journal of neurology,
R Ruiz Maldonado, and L Tamayo, and A Carnevale, and A López, and L Peña
Ichthyosis in the Sjögren-Larsson syndrome.
April 1982, Clinical genetics,
R Ruiz Maldonado, and L Tamayo, and A Carnevale, and A López, and L Peña
[Genetic counseling in Sjögren-Larsson syndrome (author's transl)].
January 1978, Zeitschrift fur Orthopadie und ihre Grenzgebiete,
R Ruiz Maldonado, and L Tamayo, and A Carnevale, and A López, and L Peña
[Contribution to the Sjögren-Larsson syndrome (author's transl)].
March 1974, MMW, Munchener medizinische Wochenschrift,
R Ruiz Maldonado, and L Tamayo, and A Carnevale, and A López, and L Peña
Sjögren-Larsson syndrome. Oligophrenia--ichthyosis--di-tetraplegia.
May 1974, Humangenetik,
R Ruiz Maldonado, and L Tamayo, and A Carnevale, and A López, and L Peña
Congenital ichthyosis, oligophrenia and spastic paresis (Sjögren-Larsson syndrome).
February 1971, Birth defects original article series,
R Ruiz Maldonado, and L Tamayo, and A Carnevale, and A López, and L Peña
Sjögren-larsson syndrome. Congenital ichthyosis, spastic paralysis, and oligophrenia.
November 1965, Archives of dermatology,
R Ruiz Maldonado, and L Tamayo, and A Carnevale, and A López, and L Peña
Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.
August 2010, Archives of dermatological research,
R Ruiz Maldonado, and L Tamayo, and A Carnevale, and A López, and L Peña
Zinc and copper concentration in serum of patients with congenital ichthyosis, spastic di- or tetraplegia and mental retardation (Sjögren-Larsson syndrome).
January 1981, Upsala journal of medical sciences,
Copied contents to your clipboard!