Results 151 to 160 of about 338,913 (237)

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) facilitate the loading of transfer RNAs with their cognate amino acids in the cytosol (ARS1), mitochondria (ARS2), or both (dual ARS). ARS deficiencies are clinically heterogeneous and can cause severe, occasionally fatal disease.
I. J. J. Muffels, G. Kok, Z. Tang, L. S. Medeiros, F. O. Poswar, W. P. Vermeij, R. Rodenburg, K. Smit, S. K. Sukumaran, S. B. Wortmann, L. Averdunk, J. Munch, J. Pak‐lam Ho, A. M. K. Kwok, E. E. S. Nieuwenhuis, P. M. van Hasselt, I. V. D. Schwartz, C. M. A. Lubout, A. M. Bosch, K. Koop, E. M. M. Hoytema van Konijnenburg, S. A. Fuchs   +21 more
wiley   +1 more source

Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Dual inherited defects affecting urea cycle function are exceptionally rare. We report the first case, to our knowledge, of the coexistence of argininosuccinic aciduria (ASA) and citrin deficiency (CD). A girl born to consanguineous Tunisian parents presented at 6 months of age with recurrent seizures, vomiting, developmental delay, and severe
Mouna Zribi, Mariem Bhouri, Safa Khatrouch, Hela Boudabous, Johannes Häberle, Mohamed Slim Abdelmoula, Amel Ben Chehida   +6 more
wiley   +1 more source

Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome. [PDF]

Eur J Neurol
Muhmann D, Haliloğlu G, Grimalt MA, Osredkar D, Castro AV, Corredera SC, Abicht A, Yıldız AE, Böhm J, Schara-Schmidt U, Gergeli AT, Estevez-Arias B, Vicente EC, Nascimento A, Marina AD, Benito DN, Roos A.   +16 more
europepmc   +1 more source

The Use of Overnight Oximetry and Polysomnography in Late Preterm to Term Newborns Requiring Home Oxygen at Discharge

Pediatric Pulmonology, Volume 61, Issue 11, November 2026.
ABSTRACT Background and Objective Overnight oximetry is routinely used to assess long‐term oxygen therapy (LTOT) in late preterm and term newborns; however, there is a lack of population‐specific evidence‐based guidelines. This single‐center, retrospective cohort study describes the clinical characteristics and management approach for LTOT in this ...
Amelia N. Noone, Tom Goddard, Tara M. Crawford, Chad C. Andersen, Michael J. Stark   +4 more
wiley   +1 more source

Update on Selected Adverse Events of Concern Following Immunization With Acellular Pertussis Vaccines, a Narrative Review

Acta Paediatrica, Volume 115, Issue 11, Page 2370-2379, November 2026.
ABSTRACT Aim To provide an update paper on evidence of adverse events of concern following immunization (AEFI) with pertussis vaccines, focusing primarily on acellular (aP) vaccines. Methods Evidence was synthesised from epidemiological studies, systematic reviews over recent decades, expert interpretations in reviews from relevant research teams and ...
Lennart Nilsson, Jann Storsaeter
wiley   +1 more source

Benefit of Salbutamol for the Treatment of Neuromuscular Junction Dysfunction in Patients With Purine-Rich Element Binding Protein A (PURA) Syndrome. [PDF]

Cureus
Yau ML, Beck C, Fung EL, Yiu EM, Tewierik C, Leung CH, Cheung HM, Yam KK, Wong KN, O'Neill TS, Howell KB, Chong SC.   +11 more
europepmc   +1 more source

Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies. [PDF]

Front Med (Lausanne)
Cimino C, Sortino V, Sapuppo A, Saporito MAN, Scarlata F, Falsaperla R.   +5 more
europepmc   +1 more source

Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population. [PDF]

Sci Rep, 2016
Wang Y, Peng W, Guo HY, Li H, Tian J, Shi YJ, Yang X, Yang Y, Zhang WQ, Liu X, Liu GN, Deng T, Sun YM, Xing WL, Cheng J, Feng ZC.   +15 more
europepmc   +1 more source

Case Report: Ultra-early nusinersen initiation with pre-procedural spinal ultrasound-assisted intrathecal access in a symptomatic neonate with spinal muscular atrophy. [PDF]

Front Pediatr
Xie N, Sui Y, Zhang Y, Zhang L, Li J, Sun Y, Liu X.   +6 more
europepmc   +1 more source