Results 151 to 160 of about 9,877 (241)

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Inequities in Therapy for Infantile Spasms: A Call to Action. [PDF]

Ann Neurol, 2022
Baumer FM, Mytinger JR, Neville K, Briscoe Abath C, Gutierrez CA, Numis AL, Harini C, He Z, Hussain SA, Berg AT, Chu CJ, Gaillard WD, Loddenkemper T, Pasupuleti A, Samanta D, Singh RK, Singhal NS, Wusthoff CJ, Wirrell EC, Yozawitz E, Knupp KG, Shellhaas RA, Grinspan ZM, Pediatric Epilepsy Research Consortium, National Infantile Spasms Consortium.   +24 more
europepmc   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic   +5 more
wiley   +1 more source

Whole genomic approach in mutation discovery of infantile spasms patients. [PDF]

Front Neurol, 2022
Lee S, Jang S, Kim JI, Chae JH, Kim KJ, Lim BC.   +5 more
europepmc   +1 more source

Infantile Spasms in Tuberous Sclerosis Complex: Lesion or Network? [PDF]

Epilepsy Curr, 2021
Joshi C, Bear JJ.
europepmc   +1 more source

Síndrome de West. [PDF]

, 1985
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Deud, Luiz Fernando Raposo
core  

Steroids in Infantile Spasms Syndrome: Another Trial, Another Drug, Another Dose, What's Next? [PDF]

Ann Indian Acad Neurol, 2022
Whitney R, Jain P.
europepmc   +1 more source

The Efficacy of the Ketogenic Diet in Improving Seizures and EEG Findings in Patients with Refractory Infantile Spasms. [PDF]

Iran J Child Neurol, 2022
Hanifiha M, Shervin Badv R, Mahmoudi M, Tavasoli AR.   +3 more
europepmc   +1 more source

Association of Time to Clinical Remission With Sustained Resolution in Children With New-Onset Infantile Spasms. [PDF]

Neurology, 2022
Yuskaitis CJ, Mytinger JR, Baumer FM, Zhang B, Liu S, Samanta D, Hussain SA, Yozawitz EG, Keator CG, Joshi C, Singh RK, Bhatia S, Bhalla S, Shellhaas R, Harini C, Pediatric Epilepsy Research Consortium.   +15 more
europepmc   +1 more source