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Page 1
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.
Landino J, Jnah AJ, Newberry DM, Iben SC. Landino J, et al. J Perinat Neonatal Nurs. 2017 Oct/Dec;31(4):350-357. doi: 10.1097/JPN.0000000000000282. J Perinat Neonatal Nurs. 2017. PMID: 29068853 Review.
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence of 1 in 100 000 live births. ...The purpose of this article is to anticipate the needs of both patients with known and prenatal diagn
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence
Alkyl-dihydroxyacetonephosphate synthase.
de Vet EC, van den Bosch H. de Vet EC, et al. Cell Biochem Biophys. 2000;32 Spring:117-21. doi: 10.1385/cbb:32:1-3:117. Cell Biochem Biophys. 2000. PMID: 11330037 Review.
In both cases, the enzyme appears to be synthesized as a precursor protein with a N-terminal cleavable presequence containing a peroxisomal targeting signal (PTS) type 2. Levels of the enzyme protein were found to be strongly reduced in human fibroblasts derived from Zellw …
In both cases, the enzyme appears to be synthesized as a precursor protein with a N-terminal cleavable presequence containing a peroxisomal …
The peroxisome and the eye.
Folz SJ, Trobe JD. Folz SJ, et al. Surv Ophthalmol. 1991 Mar-Apr;35(5):353-68. doi: 10.1016/0039-6257(91)90185-i. Surv Ophthalmol. 1991. PMID: 1710072 Free article. Review.
The peroxisomal disorders have been divided into three groups: 1) those that result from defective biogenesis of the peroxisome (Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease); 2) those that result from multiple enzyme deficiencies (r
The peroxisomal disorders have been divided into three groups: 1) those that result from defective biogenesis of the peroxisome (Zell …
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR, Ebberink MS. Waterham HR, et al. Biochim Biophys Acta. 2012 Sep;1822(9):1430-41. doi: 10.1016/j.bbadis.2012.04.006. Epub 2012 Apr 25. Biochim Biophys Acta. 2012. PMID: 22871920 Free article. Review.
Human peroxisome biogenesis disorders (PBDs) are a heterogeneous group of autosomal recessive disorders comprised of two clinically distinct subtypes: the Zellweger syndrome spectrum (ZSS) disorders and rhizomelic chondrodysplasia punctata (RCDP) type
Human peroxisome biogenesis disorders (PBDs) are a heterogeneous group of autosomal recessive disorders comprised of two clinically distinct …
[Peroxisomal hereditary diseases].
Chandoga J, Tomková M, Hlavatá A. Chandoga J, et al. Bratisl Lek Listy. 1997 Jan;98(1):32-42. Bratisl Lek Listy. 1997. PMID: 9264803 Review. Slovak.
The group of diseases in which patients develop a generalised loss of peroxisomal functions includes: Zellweger's cerebro-hepato-renal syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, hyperpipecolic acidaemia. Other diseases, such as rhizomelic chond
The group of diseases in which patients develop a generalised loss of peroxisomal functions includes: Zellweger's cerebro-hepato-renal syndr …
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
Wegwerth PJ, White AL, Stoway SD, Loken PR, Oglesbee D, Matern D, Tortorelli S, Raymond KM, Braverman NE, Gavrilov DK. Wegwerth PJ, et al. J Inherit Metab Dis. 2023 Nov;46(6):1159-1169. doi: 10.1002/jimd.12682. Epub 2023 Oct 31. J Inherit Metab Dis. 2023. PMID: 37747296 Review.
Measurement of plasmalogens is useful for the biochemical diagnosis of rhizomelic chondrodysplasia punctata (RCDP) and is also informative for Zellweger spectrum disorders (ZSD). ...Determination of preliminary disease ranges was made by using 45 samples from …
Measurement of plasmalogens is useful for the biochemical diagnosis of rhizomelic chondrodysplasia punctata (RCDP) and …
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 …
Peroxisomal disorders, a group of genetic diseases caused by peroxisomal dysfunction, can be classified into three groups: (1) disord …
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
Wierzbicki AS, Lloyd MD, Schofield CJ, Feher MD, Gibberd FB. Wierzbicki AS, et al. J Neurochem. 2002 Mar;80(5):727-35. doi: 10.1046/j.0022-3042.2002.00766.x. J Neurochem. 2002. PMID: 11948235 Free article. Review.
Refsum's disease (hereditary motor sensory neuropathy type IV, heredopathia atactica polyneuritiformis) is an autosomal recessive disorder the clinical features of which include retinitis pigmentosa, blindness, anosmia, deafness, sensory neuropathy, ataxia and accumulation …
Refsum's disease (hereditary motor sensory neuropathy type IV, heredopathia atactica polyneuritiformis) is an autosomal recessive dis …
Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type.
Argo KM, Toriello HV, Jelsema RD, Zuidema LJ. Argo KM, et al. Ultrasound Obstet Gynecol. 1996 Nov;8(5):350-4. doi: 10.1046/j.1469-0705.1996.08050350.x. Ultrasound Obstet Gynecol. 1996. PMID: 8978012 Free article. Review.
The rhizomelic form is generally lethal, whereas one form of mesomelic chondrodysplasia punctata has been described that is associated with a presumably normal lifespan and intelligence. We describe a case of a fetus suspected prenatally of having rhizomel
The rhizomelic form is generally lethal, whereas one form of mesomelic chondrodysplasia punctata has been described tha …
[Peroxisomal hereditary metabolic disorders].
Chandoga J, Petrovic R. Chandoga J, et al. Cas Lek Cesk. 2001 Oct 25;140(21):651-7. Cas Lek Cesk. 2001. PMID: 11766453 Review. Slovak.
Combined incidence of peroxisomal hereditary disorders in the Western Europe is estimated to be 1:10,000. Beside the X-linked adrenoleukodystrophy, all others have the autosomal-recessive type of heredity. In phenotypic manifestation of generalized forms, as in the …
Combined incidence of peroxisomal hereditary disorders in the Western Europe is estimated to be 1:10,000. Beside the X-linked adrenol …
11 results