Results 31 to 40 of about 8,302 (215)

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report

Journal of Medical Case Reports, 2017
Background The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders.
Maria Blomqvist, Karin Ahlberg, Julia Lindgren, Sacha Ferdinandusse, Jorge Asin-Cayuela   +4 more
doaj   +1 more source

Dysmorphic features in a newborn with neurological, liver and kidney involvement by defective peroxisomal biogenesis. Case report

Case Reports, 2020
Introduction: Inborn errors of metabolism have significant morbidity and mortality rates in the neonatal period. One of these disorders is defective peroxisomal biogenesis, which causes complex and severe clinical pictures because peroxisomes are present
Yolanda Cifuentes, Clara Arteaga
doaj   +1 more source

Zellweger Syndrome

Sri Lanka Journal of Neurology, 2015
No abstract ...
M. N. P. Perera, P. D. Rathnayaka, E. A. Jasinge, S. K. Arulmoli   +3 more
openaire   +2 more sources

Peroxisomal biogenesis disorders in Zellweger syndrome spectrum: diagnosis, monitoring and treatment according to the recommendations of the Global Foundation for Peroxisomal Disorders

Zdorovʹe Rebenka, 2018
The article deals with the modern principles for the diagnosis and treatment of peroxisomal biogenesis disorders of Zellweger syndrome spectrum according to the recommendations of the Global Foundation for Peroxisomal Disorders 2016.
M.A. Gonchar, G.R. Muratov, O.L. Logvinova, E.M. Pushkar, E.P. Pomazunovskaya, E.V. Omelchenko, N.V. Shulga, I.M. Galdina, A.S. Zubko, N.V. Strebul   +9 more
doaj   +1 more source

3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria

Journal of Lipid Research, 1999
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL, E.C. 4.1.3.4) has a unique dual localization in both mitochondria and peroxisomes. Mitochondrial HL (~31.0 kDa) catalyzes the last step of ketogenesis; the function of peroxisomal HL (~33.5 kDa) is unknown.
Lyudmila I. Ashmarina, Alexey V. Pshezhetsky, Steven S. Branda, Grazia Isaya, Grant A. Mitchell   +4 more
doaj   +1 more source

Saudi patient with peroxisome biogenesis disorder with novel variant: a case report

Journal of Biochemical and Clinical Genetics, 2021
Background: Peroxisomes are cells' organelles that responsible for the metabolism of branched-chain and very-long-chain fatty acids (VLCFA), polyamines, and amino acids.
Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni   +3 more
doaj   +1 more source

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli, Adams, Amyot, Barbeau, Bosch, Bray, Campanella, Cohen, Cox, Coërs, Croft, Direkze, Dutil, Fried, Fuchs, Goto, Graef von, Graf, Hartmann, Hayes, Julien, Kearns, Kiloh, Krause, Lakin, Lees, Lewis, Liversedge, Lundberg, Man, Maningand, Mater, Matsunaga, Murphy, Myrianthopoulos, Nicolaissen, Peterman, Radu, Rebeiz, Roberts, Satoyoshi, Saucier, Schmitt, Schmitt, Schotland, Schwarz, Szobar, Taylor, Victor, Zellweger   +49 more
core   +1 more source

An infant with blended phenotype of zellweger spectrum disorder and congenital muscular dystrophy

Annals of Indian Academy of Neurology, 2021
We report a newborn born to a consanguineous couple with antenatally detected dilatation of third ventricle, unilateral talipes, and intra uterine growth retardation.
Priyanka Gupta, Rajendra Prasad Anne, Sai Kiran Deshabhotla, Gayatri Nerakh   +3 more
doaj   +1 more source

Who Receives Home-Based Perinatal Palliative Care: Experience from Poland [PDF]

, 2013
The current literature suggests that perinatal palliative care (PPC) programs should be comprehensive, initiated early, and integrative. So far there have been very few publications on the subject of home-based PC of newborns and neonates.
Korzeniewska-Eksterowicz, Aleksandra, Kędzierska, Bogna, Młynarski, Wojciech, Przysło, Łukasz, Stolarska, Małgorzata   +4 more
core   +4 more sources

Lack of requirement for sterol carrier protein-2 in the intracellular trafficking of lysosomal cholesterol.

Journal of Lipid Research, 1994
Previous work has established that the absence of peroxisomes, as occurs in Zellweger syndrome, is accompanied by the absence of cellular sterol carrier protein-2 (SCP2).
W J Johnson, M P Reinhart
doaj   +1 more source