Results 31 to 40 of about 1,425 (92)

Mitochondrial Cytochrome C deficiency can show the first disease signs in the prenatal stage. [PDF]

Eur J Hum Genet, 2023
Garone C.
europepmc   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

The Importance of Biochemical Screenings in the Diagnosis of Hypophosphatasia: Applications, Methodologies, and Challenges. [PDF]

Int J Mol Sci
Marini F, Palmini G, Donati S, Giusti F, Brandi ML.   +4 more
europepmc   +1 more source

Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions. [PDF]

Int J Neonatal Screen
Monostori P, Szatmári I, Baráth Á, Bókay J, Csenki M, Galla Z, Gellén B, Grecsó N, Gyüre E, Halász Z, Hegedűs K, Kincs J, Kiss E, Kósa M, Lénárt I, Pálmay A, Rácz G, Szabó H, Szabó L, Tőkési V, Xue A, Zsidegh P, Szabó AJ, Bereczki C.   +23 more
europepmc   +1 more source

Prevalence, Clinic-Etiological Spectrum and Outcome of Pediatric Metabolic Epilepsy - A Single Centre Experience. [PDF]

Ann Indian Acad Neurol, 2023
Cornelius LP, Livingston KJ, Elango N.
europepmc   +1 more source

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases. [PDF]

Brain Commun
Juliá-Palacios N, Muñoz-Pujol G, Maroofian R, Bertoli-Avella AM, Gómez-Chiari M, Muchart-López J, Paredes-Fuentes AJ, O'Callaghan M, Machado-Casas IS, Cristian I, Morrison J, Garcia-Cazorla A, Codina A, Miryounesi M, Zonic E, Bauer P, Cheema H, Anjum MN, Al-Sannaa N, Abd Elmaksoud M, Ababneh F, Alijanpour S, Tonekaboni SH, Fayazi A, Urbaniak M, Barba U, Hoenicka J, Palau F, Houlden H, Ortigoza-Escobar JD, Ribes A, Santos-Ocaña C, Tyler M, Gaffney P, Carroll CJ, Tort F, Wierenga KJ, Webb BD, Artuch R, Baide-Mairena H, Urreizti R.   +40 more
europepmc   +1 more source

Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital. [PDF]

JIMD Rep
Spolador GM, Bueno C, Polastrini RTV, Zoboli I, Henrique AC, Freitas E, do Nascimento AG, Pugliese C, Kok F, Barbosa SMM.   +9 more
europepmc   +1 more source

Dissecting the role of vitamin B₁₂ metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries. [PDF]

Differentiation
Pinales BE, Palomino CE, Rosas-Acosta G, Francia G, Quintana AM.   +4 more
europepmc   +1 more source

Endocrine system disturbances in children with inherited metabolic diseases: a narrative review. [PDF]

Front Endocrinol (Lausanne)
Tagi VM, Fiori L, Montanari C, Tonduti D, Ferrario M, Gambino M, Greco IP, Cecchini A, Calcaterra V, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Urolithiasis in Children-Clinical Picture, Pathogenesis, and Diagnostic Approach. [PDF]

Biomolecules
Pięta J, Szyszka M, Lipiński P, Skrzypczyk P.   +3 more
europepmc   +1 more source