Results 81 to 90 of about 8,302 (215)

L-pipecolaturia in Zellweger syndrome

Biochimica et Biophysica Acta (BBA) - General Subjects, 1986
Purified rat peroxisomes have been reported to oxidize D-pipecolic acid and the pipecolaturia of Zellweger syndrome has been attributed to the absence of peroxisomes. The logical consequences would be excesses of D-pipecolic acid in the urine of patients with Zellweger syndrome.
S, Lam, J, Hutzler, J, Dancis
openaire   +2 more sources

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Phosphomevalonate kinase is a cytosolic protein in humans

Journal of Lipid Research, 2004
In the past decade, a predominant peroxisomal localization has been reported for several enzymes functioning in the presqualene segment of the cholesterol/isoprenoid biosynthesis pathway.
Sietske Hogenboom, John J.M. Tuyp, Marc Espeel, Janet Koster, Ronald J.A. Wanders, Hans R. Waterham   +5 more
doaj   +1 more source

WIPI1, BAG1 and PEX3 autophagy-related genes are relevant melanoma markers [PDF]

, 2018
ROS and oxidative stress may promote autophagy; on the other hand, autophagy may help reduce oxidative damages. According to the known interplay of ROS, autophagy, and melanoma onset, we hypothesized that autophagy-related genes (ARGs) may represent ...
D’Arcangelo, Daniela, Facchiano, Antonio, Facchiano, Francesco, Giampietri, Claudia, Muscio, Mario, Scatozza, Francesca   +5 more
core   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

A Very Rare Case of Colpocephaly Associated With Trisomy 18

Gynecology Obstetrics & Reproductive Medicine, 2012
We presented a very rare case of colphocephaly which is a term used to describe a congenital abnormal enlargement of the occipital horns of the lateral ventricules associated with normal frontal horns.
Seyfettin Uludağ, Yavuz Aydın, Begüm Aydoğan, Burcu Aydın   +3 more
doaj  

Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal α-methylacyl-CoA racemase deficiency

Journal of Lipid Research, 2001
We identified a new peroxisomal disorder caused by a deficiency of the enzyme α-methylacyl-coenzyme A (CoA) racemase. Patients with this disorder show elevated plasma levels of pristanic acid and the bile acid intermediates di- and trihydroxycholestanoic
Sacha Ferdinandusse, Henk Overmars, Simone Denis, Hans R. Waterham, Ronald J.A. Wanders, Peter Vreken   +5 more
doaj   +1 more source

Prohormones in the early diagnosis of cardiac syncope [PDF]

, 2017
Background--The early detection of cardiac syncope is challenging. We aimed to evaluate the diagnostic value of 4 novel prohormones, quantifying different neurohumoral pathways, possibly involved in the pathophysiological features of cardiac syncope ...
Badertscher, Patrick, Boeddinghaus, Jasper, Buser, Andreas, Bustamante, José, Christ, Michael, Cullen, Louise, de Lavallaz, Jeanne du Fay, Di Somma, Salvatore, Flores, Dayana, Frank Peacock, W., Geigy, Nicolas, Giménez, Maria Rubini, Javier Martin-Sanchez, F., Kawecki, Damian, Keller, Dagmar I., Kloos, Wanda, Kozhuharov, Nikola, Kuehne, Michael, Lohrmann, Jens, López, Beatriz, Miró, Oscar, Morawiec, Beata, Mueller, Christian, Nestelberger, Thomas, Osswald, Stefan, Poepping, Imke, Puelacher, Christian, Reichlin, Tobias, Rentsch, Katharina, Sabti, Zaid, Sarasin, François, Shrestha, Samyut, Strebel, Ivo, Than, Martin, Tschuck, Michael, Twerenbold, Raphael, Wildi, Karin   +36 more
core   +1 more source

A Scoping Review of Human Teratogens and Their Impact on the Developing Brain: A Contribution From the ConcePTION Project

Birth Defects Research, Volume 117, Issue 9, September 2025.
ABSTRACT Certain medications, when used during pregnancy, are known to impact human prenatal development. Historically, little attention has been given to the impact of in utero exposure on the developing brain, despite the significance of known teratogen‐induced neurodevelopmental difficulties.
M. Bluett‐Duncan, J. Adams, M. Berkovitch, M. Berlin, A. Cahoon, J. Clayton‐Smith, C. Jackson, S. Khanom, D. Mølgaard‐Nielsen, J. L. Richardson, V. Simms, M. Stellfeld, U. Winterfeld, L. M. Yates, R. L. Bromley   +14 more
wiley   +1 more source