Results 81 to 90 of about 9,332,063 (205)

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

Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.

Folia biologica, 2017
Menkes disease is a severe X-linked recessive disorder caused by a defect in the ATP7A gene, which encodes a membrane copper-transporting ATPase. Deficient activity of the ATP7A protein results in decreased intestinal absorption of copper, low copper ...
L. Králik, E. Flachsová, H. Hansíková, Vladimir Saudek, Jiří Zeman, Pavel Martásek   +5 more
semanticscholar   +1 more source

Effectiveness of a Tiered Referral System and Early Nutritional Intervention to Prevent and Recover Stunting in Under‐Five Indonesian Children

Food Science &Nutrition, Volume 13, Issue 10, October 2025.
Protein‐based supplementation at the community level (e.g., milk and/or egg) prevented weight faltering in 71.7% of children. Early diagnosis and timely treatment in primary healthcare services prevented stunting in 75.6% of cases. Among stunted children referred to regional hospitals, 43.6% recovered within 6 months with FSMP for catch‐up growth. This
Damayanti Rusli Sjarif, Klara Yuliarti, Lanny Christine Gultom, Cut Nurul Hafifah, I. Gusti Lanang Sidiartha, Meta Herdiana Hanindita, Neti Nurani, Aidah Juliaty, Ali Alhadar, Anik Puryatni, Arief Budiarto, Endy Paryanto Prawirohartono, Irma Sri Hidayati, Julius Anzar, Moretta Damayanti, Nur Aisiyah Widjaja, Nice Rachmawati Masnadi, Rina Pratiwi, Rini Andriani, Ronald Rompies, Novitria Dwinanda, Winra Pratita, William Jayadi Iskandar, Jessy Hardjo   +23 more
wiley   +1 more source

Diagnostic copper imaging of Menkes disease by synchrotron radiation-generated X-ray fluorescence analysis

Scientific Reports, 2016
Copper (Cu) is an indispensable metal for normal development and function of humans, especially in central nervous system (CNS). However, its redox activity requires accurate Cu transport system.
M. Kinebuchi, A. Matsuura, T. Kiyono, Yumiko Nomura, Sachiko Kimura   +4 more
semanticscholar   +1 more source

Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease

Case Reports in Radiology, 2012
Menkes kinky hair disease is a rare X-linked recessive disease nearly exclusively affecting males who present at 2-3 months of age due to abnormal functioning of copper-dependent enzymes due to deficiency of copper.
Rozil Gandhi, Ritu Kakkar, Sajeev Rajan, Rashmi Bhangale, Shrinivas Desai   +4 more
doaj   +1 more source

Issue Information

United European Gastroenterology Journal, Volume 13, Issue 10, Page 1845-1848, December 2025.
No abstract is available for this article.
wiley   +1 more source

Epilepsy in Menkes Disease: Analysis of Clinical Stages [PDF]

, 2006
Nadia Bahi‐Buisson, Anna Kamińska, Rima Nabbout, Christine Barnérias, Isabelle Desguerre, Pascale de Lonlay, M. Mayer, Perrine Plouin, Olivier Dulac, Catherine Chiron   +9 more
openalex   +1 more source

Novel ATP7A gene mutation in a patient with Menkes disease

The Application of Clinical Genetics, 2018
Gabriela Caicedo-Herrera,1 Estephania Candelo,1 Juan Pinilla,2 Andrés Vidal,2 Santiago Cruz,3 Harry Mauricio Pachajoa1–4 1Health Sciences Faculty, Universidad Icesi, Cali, Colombia; 2Dermatology, Fundación Valle Del Lili, Cali ...
Caicedo-Herrera G, Candelo E, Pinilla J, Vidal A, Cruz S, Pachajoa HM   +5 more
doaj  

Disorders of Copper Metabolism in Children—A Problem too Rarely Recognized

Metabolites
Copper plays an important role in metabolic processes. Both deficiency and excess of this element have a negative effect and lead to pathological conditions. Copper is a cofactor of many enzymatic reactions.
Sabina Więcek, Justyna Paprocka
doaj   +1 more source

Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease

Medicine, 2016
Background: Menkes disease (MD) is a disorder of copper metabolism due to ATP7A gene mutation that leads to severe copper deficiency. Deformed blood vessels can be found in many parts of the body, and intracranial hematoma is generally reported. Methods:
Shu-Chao Weng, Chyong-hsin Hsu, Nien-Lu Wang, Shuan-Pei Lin, Chuen-Bin Jiang   +4 more
semanticscholar   +1 more source