Compounds > histidine
Page last updated: 2024-08-17

histidine and Marfan Syndrome

histidine has been researched along with Marfan Syndrome in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19903 (60.00)18.7374
1990's1 (20.00)18.2507
2000's1 (20.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Babcock, D; Francke, U; Gasner, C; Maslen, C1
Chikumi, H; Ikebuchi, M; Kuroda, H; Nanba, E; Ohgi, S; Tanaka, Y; Yamamoto, T1
Bremer, HJ; Przyrembel, H1
Gehler, J; Stopfkuchen, H1
Cross, HE; Morrow, G; Stevens, R1

Other Studies

5 other study(ies) available for histidine and Marfan Syndrome

ArticleYear
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly.
    Human genetics, 1998, Volume: 103, Issue:1

    Topics: Aged; Amino Acid Sequence; Amino Acid Substitution; Aspartic Acid; Epidermal Growth Factor; Exons; Female; Fibrillin-2; Fibrillins; Histidine; Humans; Male; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sequence Alignment; Sequence Deletion; Sequence Homology, Amino Acid; Transcription, Genetic

1998
The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome.
    Human mutation, 2000, Volume: 15, Issue:3

    Topics: Adult; Amino Acid Substitution; Arginine; Chromosomes, Human, Pair 15; Fibrillin-1; Fibrillins; Histidine; Humans; Marfan Syndrome; Microfilament Proteins; Middle Aged; Molecular Sequence Data; Mutation, Missense; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational

2000
[Hereditary metabolic disorders with significance for adult age. Homocystinuria, histidinemia, cystinuria, vitamin-D-resistant rickets, alpha1-antitrypsin deficiency].
    Der Internist, 1976, Volume: 17, Issue:7

    Topics: Adult; Age Factors; alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Child; Cystinuria; Diagnosis, Differential; Histidine; Homocystinuria; Humans; Hypophosphatemia, Familial; Liver Cirrhosis; Marfan Syndrome; Metabolism, Inborn Errors; Pulmonary Emphysema

1976
[Histidinemia with a clinical sign of Marfan's syndrome].
    Monatsschrift fur Kinderheilkunde, 1977, Volume: 125, Issue:5

    Topics: Adolescent; Histidine; Histidine Ammonia-Lyase; Humans; Male; Marfan Syndrome; Phenotype

1977
Histidinemia with features of the Marfan syndrome.
    The Journal of pediatrics, 1975, Volume: 86, Issue:6

    Topics: Adolescent; Echocardiography; Eye Manifestations; Histidine; Histidine Ammonia-Lyase; Humans; Male; Marfan Syndrome; Ophthalmoscopy

1975