Page last updated: 2024-08-26

pyridinoline and Ehlers-Danlos Syndrome

pyridinoline has been researched along with Ehlers-Danlos Syndrome in 9 studies

Research

Studies (9)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	5 (55.56)	18.2507
2000's	2 (22.22)	29.6817
2010's	2 (22.22)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Albrecht, B; Chambaz, C; Eich, G; Elçioglu, NH; Eyre, DR; Giunta, C; Janecke, AR; Kraenzlin, M; Steinmann, B; Weis, M; Yeowell, H	1
Ataman, E; Baumgartner, M; Chopra, M; Garcia, S; Giunta, C; Jones, K; Kariminejad, A; Kraenzlin, M; Marcelis, C; Rohrbach, M; Serdaroglu, G; Vandersteen, A; Yiş, U	1
Amberger, A; Baumann, M; Bittner, RE; Bönnemann, CG; Carlier, RY; Cirak, S; Colombi, M; Deutschmann, A; Fauth, C; Giunta, C; Hu, Y; Karall, D; Krabichler, B; Muntoni, F; Quijano-Roy, S; Rohrbach, M; Romero, NB; Rostásy, K; Rüschendorf, F; Schreiber, G; Steinmann, B; Straub, V; Zoppi, N; Zou, Y; Zschocke, J	1
Al-Gazali, LI; Brunner, HG; Giunta, C; Kraenzlin, ME; Randolph, A; Steinmann, B	1
Açil, Y; Brenner, R; Brinckmann, J; Müller, PK; Vetter, U	1
Dembure, PP; Elsas, LJ; Pasquali, M; Still, MJ	1
Eyre, DR; Shao, P; Steinmann, B	1
Dembure, PP; Elsas, LJ; Evinger, JD; Longo, N; Pasquali, M; Rosen, RI; Still, MJ; Vales, T	1
Giunta, C; Jarisch, A; König, R; Steinmann, B; Zielen, S	1

Reviews

1 review(s) available for pyridinoline and Ehlers-Danlos Syndrome

Article	Year
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). American journal of medical genetics. Part A, 2005, Mar-01, Volume: 133A, Issue:2 Topics: Abnormalities, Multiple; Amino Acids; Collagen Type III; Collagen Type V; Consanguinity; Diagnosis, Differential; Edema; Ehlers-Danlos Syndrome; Electrophoresis, Polyacrylamide Gel; Female; Growth Disorders; Humans; Infant; Kyphosis; Muscle Hypotonia; Mutation; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; Syndrome	2005

Article

Year

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

American journal of medical genetics. Part A, 2005, Mar-01, Volume: 133A, Issue:2

Topics: Abnormalities, Multiple; Amino Acids; Collagen Type III; Collagen Type V; Consanguinity; Diagnosis, Differential; Edema; Ehlers-Danlos Syndrome; Electrophoresis, Polyacrylamide Gel; Female; Growth Disorders; Humans; Infant; Kyphosis; Muscle Hypotonia; Mutation; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; Syndrome

2005

Other Studies

8 other study(ies) available for pyridinoline and Ehlers-Danlos Syndrome

Article	Year
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. American journal of human genetics, 2008, Volume: 82, Issue:6 Topics: Adult; Amino Acid Sequence; Amino Acids; Base Sequence; Cation Transport Proteins; Child; Child, Preschool; Collagen; Consanguinity; DNA; Ehlers-Danlos Syndrome; Female; Genes, Recessive; Haplotypes; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Sequence Deletion; Sequence Homology, Amino Acid	2008
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet journal of rare diseases, 2011, Jun-23, Volume: 6 Topics: Adolescent; Adult; Amino Acids; Biopsy; Cells, Cultured; Child; Child, Preschool; Developmental Disabilities; DNA Mutational Analysis; Ehlers-Danlos Syndrome; Female; Fibroblasts; Genotype; Humans; Infant; Kyphosis; Male; Muscle Hypotonia; Phenotype; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; Scoliosis; Skin	2011
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. American journal of human genetics, 2012, Feb-10, Volume: 90, Issue:2 Topics: Abnormalities, Multiple; Adolescent; Amino Acids; Child; Child, Preschool; cis-trans-Isomerases; Ehlers-Danlos Syndrome; Endoplasmic Reticulum; Extracellular Matrix; Female; Fibroblasts; Frameshift Mutation; Genetic Variation; Hearing Loss; Heterozygote; Homozygote; Humans; Male; Middle Aged; Peptidylprolyl Isomerase; Phenotype; Protein Folding	2012
Ehlers-Danlos syndrome type VI: cross-link pattern in tissue and urine sample as a diagnostic marker. Journal of the American Academy of Dermatology, 1995, Volume: 33, Issue:3 Topics: Adolescent; Amino Acids; Biomarkers; Bone and Bones; Case-Control Studies; Collagen; Ehlers-Danlos Syndrome; Female; Humans; Male; Skin; Tissue Distribution	1995
Urinary pyridinium cross-links: a noninvasive diagnostic test for Ehlers-Danlos syndrome type VI. The New England journal of medicine, 1994, Jul-14, Volume: 331, Issue:2 Topics: Adult; Amino Acids; Child; Child, Preschool; Ehlers-Danlos Syndrome; Humans; Pyridinium Compounds	1994
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. American journal of human genetics, 1995, Volume: 57, Issue:6 Topics: Adolescent; Adult; Aged; Amino Acids; Child; Child, Preschool; Ehlers-Danlos Syndrome; Female; Humans; Male; Middle Aged	1995
Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI. Proceedings of the Association of American Physicians, 1997, Volume: 109, Issue:1 Topics: Adolescent; Amino Acids; Ascorbic Acid; Cells, Cultured; Child; Collagen; Cross-Linking Reagents; Ehlers-Danlos Syndrome; Female; Fibroblasts; Humans; Hydroxylysine; Lysine; Pyridinium Compounds; Skin	1997
Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosis. American journal of medical genetics, 1998, Aug-06, Volume: 78, Issue:5 Topics: Amino Acids; Collagen; Consanguinity; Cystic Fibrosis; Ehlers-Danlos Syndrome; Female; Genes, Recessive; Hand Deformities, Congenital; Humans; Hydroxylysine; Infant, Newborn; Nuclear Family; Pedigree; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; Prognosis; Radiography; Scoliosis; Turkey	1998