Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1968 1
1973 1
1989 1
1991 1
1993 2
1994 1
1998 1
1999 1
2002 1
2003 1
2004 1
2009 1
2015 2
2016 1
2018 1
2019 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

18 results

Results by year

Filters applied: . Clear all
Page 1
Prenatal and perinatal diagnosis of peroxisomal disorders.
Schutgens RB, Schrakamp G, Wanders RJ, Heymans HS, Tager JM, van den Bosch H. Schutgens RB, et al. J Inherit Metab Dis. 1989;12 Suppl 1:118-34. doi: 10.1007/BF01799291. J Inherit Metab Dis. 1989. PMID: 2509803 Review.
Peroxisomal disorders, a group of genetic diseases caused by peroxisomal dysfunction, can be classified into three groups: (1) disorders of peroxisome biogenesis with a generalized loss of peroxisomal functions (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum …
Peroxisomal disorders, a group of genetic diseases caused by peroxisomal dysfunction, can be classified into three groups: (1) disorders of …
Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-Hunermann syndrome).
Pryde PG, Bawle E, Brandt F, Romero R, Treadwell MC, Evans MI. Pryde PG, et al. Am J Med Genet. 1993 Sep 1;47(3):426-31. doi: 10.1002/ajmg.1320470327. Am J Med Genet. 1993. PMID: 8135294 Free article.
Chondrodysplasia punctata has been classified into two major types including the rare autosomal recessive "rhizomelic type" and a more common but genetically heterogenous nonrhizomelic type (referred to by some authors as "Conradi-Hunermann (CH) type"). ...
Chondrodysplasia punctata has been classified into two major types including the rare autosomal recessive "rhizomelic type" an …
Genotype-phenotype correlations in disorders of peroxisome biogenesis.
Moser HW. Moser HW. Mol Genet Metab. 1999 Oct;68(2):316-27. doi: 10.1006/mgme.1999.2926. Mol Genet Metab. 1999. PMID: 10527683 Free article. Review.
The PBD are associated with four clinical phenotypes, named before their association with the organelle was recognized: Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP). Th …
The PBD are associated with four clinical phenotypes, named before their association with the organelle was recognized: Zellweger syndrome ( …
Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.
Powers JM, Moser HW. Powers JM, et al. Brain Pathol. 1998 Jan;8(1):101-20. doi: 10.1111/j.1750-3639.1998.tb00139.x. Brain Pathol. 1998. PMID: 9458170 Free PMC article. Review.
The neuronal degenerations are of two major types: (i) the axonopathy of AMN involving ascending and descending tracts of the spinal cord, and (ii) cerebellar atrophy in rhizomelic chondrodysplasia punctata and probably IRD. We postulate that the abnormal fatty acid …
The neuronal degenerations are of two major types: (i) the axonopathy of AMN involving ascending and descending tracts of the spinal cord, a …
Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.
Blask AR, Rubio EI, Chapman KA, Lawrence AK, Bulas DI. Blask AR, et al. Pediatr Radiol. 2018 Jul;48(7):979-991. doi: 10.1007/s00247-018-4098-8. Epub 2018 Mar 23. Pediatr Radiol. 2018. PMID: 29572747 Free PMC article.
BACKGROUND: Chondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. ...Outcomes included one termination and seven survivors. CONCLUSION: Chondrodysplasia …
BACKGROUND: Chondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes rangin …
Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.
Subhashini P, Jaya Krishna S, Usha Rani G, Sushma Chander N, Maheshwar Reddy G, Naushad SM. Subhashini P, et al. J Biochem. 2019 Jan 1;165(1):67-73. doi: 10.1093/jb/mvy085. J Biochem. 2019. PMID: 30295825

Significant elevation of phytanic acid was observed in Refsum (t = 6.14, P < 0.0001) and Rhizomelic chondrodysplasia punctata (RCDP) (t = 16.72, P < 0.0001). The C26/C22 ratio is slightly elevated in RCDP (t = 2.58, P = 0.01) while no such elevation was observ

…

Significant elevation of phytanic acid was observed in Refsum (t = 6.14, P < 0.0001) and Rhizomelic chondrodysplasia punctata

…
Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography.
Ruano R, Molho M, Roume J, Ville Y. Ruano R, et al. Ultrasound Obstet Gynecol. 2004 Aug;24(2):134-40. doi: 10.1002/uog.1113. Ultrasound Obstet Gynecol. 2004. PMID: 15287049 Free article.
RESULTS: There were three cases of achondroplasia, two cases of osteogenesis imperfecta type II and one case of chondrodysplasia punctata. Termination of pregnancy was performed in five cases and one fetus with osteogenesis imperfecta type II was delivered at term b …
RESULTS: There were three cases of achondroplasia, two cases of osteogenesis imperfecta type II and one case of chondrodysplasia p …
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes.
Suzuki Y, Shimozawa N, Kawabata I, Yajima S, Inoue K, Uchida Y, Izai K, Tomatsu S, Kondo N, Orii T. Suzuki Y, et al. Brain Dev. 1994 Jan-Feb;16(1):27-31. doi: 10.1016/0387-7604(94)90109-0. Brain Dev. 1994. PMID: 8059925
Prenatal diagnoses of peroxisomal disorders, including peroxisome-deficient Zellweger syndrome, isolated deficiency of peroxisomal beta-oxidation enzyme and rhizomelic type chondrodysplasia punctata were investigated by means of the lignoceric acid oxidation assay, …
Prenatal diagnoses of peroxisomal disorders, including peroxisome-deficient Zellweger syndrome, isolated deficiency of peroxisomal beta-oxid …
Prenatal sonographic diagnosis of skeletal dysplasias.
Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, Tutschek B. Schramm T, et al. Ultrasound Obstet Gynecol. 2009 Aug;34(2):160-70. doi: 10.1002/uog.6359. Ultrasound Obstet Gynecol. 2009. PMID: 19548204 Free article.
The following skeletal dysplasias were recorded: thanatophoric dysplasia (35 diagnosed correctly prenatally of 40 overall), osteogenesis imperfecta (lethal and non-lethal, 31/35), short-rib dysplasias (5/10), chondroectodermal dysplasia Ellis-van Creveld (4/9), achondroplasia (7/ …
The following skeletal dysplasias were recorded: thanatophoric dysplasia (35 diagnosed correctly prenatally of 40 overall), osteogenesis imp …
18 results