Results 51 to 60 of about 1,983 (198)

Evaluation of Newborn Screening for Diseases Using C5‐OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5‐OH Screening in the Netherlands

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT In 2007, the Dutch newborn screening (NBS) program was expanded to include C5‐OH as a marker to screen for three inborn errors of metabolism (IEMs): 3‐methylcrotonyl‐CoA carboxylase deficiency (3‐MCCD), 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency (HMGCLD) and holocarboxylase synthetase deficiency (HLCSD).
Ryan Aukes, Monique Albersen, Anita Boelen, Leo A. J. Kluijtmans, Wouter F. Visser, Maaike C. de Vries, Annet M. Bosch, on behalf of the C5‐OH NBS Working Group, Lonneke de Boer, Terry G. J. Derks, Henk Engel, Sabine Fuchs, Monique J. M. de Groot, M. Rebecca Heiner‐Fokkema, Evelien A. Kemper, Klaas Koop, Irene M. L. W. Körver‐Keularts, Mirjam Langeveld, Margot F. Mulder, Esmeralda Oussoren, Bianca Panis, M. Estela Rubio‐Gozalbo, Sain‐ de Velden, Francjan J. van Spronsen   +23 more
wiley   +1 more source

Deep Brain Stimulation in Classical Galactosemia: A Case‐Report

Movement Disorders Clinical Practice, Volume 12, Issue 11, Page 1984-1986, November 2025.
Nolwenn Billet, Emile Simon, Chloé Laurencin, Adelaide Jaulent, Paul Jaulent, Teodor Danaila, Stephane Prange, Stephane Thobois   +7 more
wiley   +1 more source

Paediatric acute liver failure: A prospective, nationwide, population‐based surveillance study in Germany

Journal of Pediatric Gastroenterology and Nutrition, Volume 81, Issue 3, Page 653-662, September 2025.
Abstract Objectives Paediatric acute liver failure (PALF) is a rare but life‐threatening condition, yet comprehensive epidemiological data in Germany are lacking. Our study aimed to systematically analyse incidence, aetiology, and outcome of PALF in Germany.
Dominic Lenz, Muhammad Abdulaziz, Bianca Peters, Matias Wagner, Lea D. Schlieben, Victor M. Corman, Ulrich Baumann, Philip Bufler, Tal Dattner, Rainer Ganschow, Kristin Genzel, Nicole Hammann, Steffen Hartleif, Bianca Hegen, Stephan Henning, André Hoerning, Martin Jankofsky, Norman Junge, Simone Kathemann, Birgit Knoppke, Martina Kohl‐Sobania, Martin Laass, Elke Lainka, Eberhard Lurz, Michael Melter, Hanna Müller, Denisa Pilic, Markus Ries, Lisa Schiefele, Tobias Schwerd, Ekkehard Sturm, Mechtild Wegner, Michael S. Urschitz, Sven F. Garbade, Daniel Wenning, Christian Drosten, Alexander Fichtner, Stefan Kölker, Georg F. Hoffmann, Holger Prokisch, Christian Staufner   +40 more
wiley   +1 more source

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease [PDF]

, 2020
We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequencing in family 2 excluded known genetic etiologies, and further variant analysis identified rare ...
Clement, E, Davison, JE, Heales, SJ, Jaros, Z, Maldonado, EM, Mayr, JA, Mestek-Boukhibar, L, Meunier, B, Rahman, S, Spenger, J, Taha, F, van den Broek, F, Weghuber, D, Wortmann, SB, Yue, WW   +14 more
core  

Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID‐19

Journal of Medical Virology, Volume 97, Issue 8, August 2025.
ABSTRACT The coronavirus disease 2019 (COVID‐19) pandemic has triggered a global health crisis, with over 700 million confirmed cases and at least 7 million deaths reported by early 2024. Children are less vulnerable to severe SARS‐CoV‐2 infection than adults and typically experience milder respiratory symptoms.
Alysson Henrique Urbanski, Flávia Cristina de Paula Freitas, Tiago Minuzzi Freire da Fontoura Gomes, Michelle Orane Schemberger, Bárbara Carvalho Santos dos Reis, Flavia Amêndola Anísio de Carvalho, Roberta Soares Faccion, Lucas de Almeida Machado, Deborah Antunes dos Santos, Daniela Prado Cunha, Margarida dos Santos Salú, Daniella Campelo Batalha Cox Moore, Mayra Marinho Presibella, Juliana Fontes Noguchi, Henrique Lira Borges, Lais Kimie Tomiura, Luiza Silva de Castro, Letícia Graziela Costa Santos, Esdras Matheus Gomes da Silva, Vinícius Da Silva Coutinho Parreira, Luis Gustavo Morello, Fabricio Klerynton Marchini, Maria Regina Tizzot, Mauricio Marcondes Ribas, Gilberto Pascolat, Carmen Australia Paredes Marcondes Ribas, Fábio Fernandes da Rocha Vicente, Alexandre Rossi Paschoal, Rubens Cat, Benilton de Sá Carvalho, Jaqueline Carvalho de Oliveira, Marcus F. Oliveira, Luiz Lehmann Coutinho, Acácia Maria Lourenço Francisco Nasr, Irina Nastassja Riediger, Jeanine Marie Nardin, Liya Regina Mikami, Ana Carolina Ramos Guimarães, Patricia Savio de Araujo‐Souza, Arnaldo Prata‐Barbosa, Zilton Farias Meira de Vasconcelos, Helisson Faoro, Hellen Geremias dos Santos, Fabio Passetti   +43 more
wiley   +1 more source

Galactosemia

Anales de Pediatría, 2011
J, Díaz Ruiz, A, Cordón Martínez, J, López López, A, Jurado Ortiz   +3 more
  +5 more sources

Galactosemia [PDF]

Diabetes, 1956
C S, ANAST, R L, JACKSON
openaire   +2 more sources

Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review. [PDF]

Int J Mol Sci, 2023
Tummolo A, Carella R, De Giovanni D, Paterno G, Simonetti S, Tolomeo M, Leone P, Barile M.   +7 more
europepmc   +1 more source

Adultos jovens com deficiência de metilentetrahidrofolato reductasa e aciduria etilenmalónica. Reporte de dois casos e revisão de tema [PDF]

, 2013
The impact of genomics in clinical medicine has been significant in recent years. Up to 2012, more than 3,000 genetic conditions have been implicated in clinical medicine.
Aristizábal, Beatriz Helena, Rincón, Olga L.   +1 more
core   +1 more source

Doenças raras com enfoque em depósito lisossômico [PDF]

Dentro do universo das Doenças Raras existe um subgrupo de Erros Inatos do Metabolismo, ao qual pertencem as Doenças de Depósito Lisossômico (DDLs). Dentre as DDLs, existe um grupo de mais de 50 doenças decorrentes da ineficácia na produção de enzimas ...
De Rosso Giuliani , Liane, Tessi de Souza, Mariana   +1 more
core   +2 more sources