Results 21 to 30 of about 1,401 (170)

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

JIMD Reports, Volume 63, Issue 2, Page 146-161, March 2022., 2022
Abstract We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by mass spectrometry (MS)/MS.
Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Belanger‐Quintana, Elena Martín‐Hernández, Marcello Bellusci, Elvira Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L. F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner   +19 more
wiley   +1 more source

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

Journal of Inherited Metabolic Disease, Volume 44, Issue 5, Page 1272-1287, September 2021., 2021
Abstract Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (MKD/HIDS) are disorders of cholesterol biosynthesis caused by variants in the MVK gene and characterized by increased urinary excretion of mevalonic acid. So far, 30 MVA patients have been reported, suffering from recurrent febrile crises and neurologic impairment.
Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, Federico Baronio, Lars Beedgen, Florian Gleich, Kathrin Jeltsch, Christina von Landenberg, Silvia Martini, Anna Simon, Christian Thiel, Konstantinos Tsiakas, Thomas Opladen, Stefan Kölker, Georg F. Hoffmann, Dorothea Haas, Unified Registry for Inherited Metabolic Disorders (U‐IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN)   +16 more
wiley   +1 more source

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

Journal of Inherited Metabolic Disease, Volume 44, Issue 4, Page 857-870, July 2021., 2021
Abstract Isovaleric aciduria (IVA), a metabolic disease with severe (classic IVA) or attenuated phenotype (mild IVA), is included in newborn screening (NBS) programs worldwide. The long‐term clinical benefit of screened individuals, however, is still rarely investigated.
Ulrike Mütze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, René Santer, Holger Blessing, Eva Thimm, Regina Ensenauer, Johannes Weigel, Skadi Beblo, Maria Arélin, Julia B. Hennermann, Thorsten Marquardt, Iris Marquardt, Peter Freisinger, Johannes Krämer, Andrea Dieckmann, Natalie Weinhold, Mareike Keller, Magdalena Walter, Katharina A. Schiergens, Esther M. Maier, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker   +26 more
wiley   +1 more source

Long‐term follow‐up with filter paper samples in patients with propionic acidemia

JIMD Reports, Volume 57, Issue 1, Page 44-51, January 2021., 2021
Abstract Background Propionic acidemia (PA) is an inherited disorder caused by deficiency of propionyl CoA carboxylase. Most patients with this disorder are diagnosed during the neonatal period because of severe metabolic acidosis and hyperammonemia. Patients are required to undergo blood and urine analysis at least 3 to 4 times per year, depending on ...
Sinziana Stanescu, Amaya Belanger‐Quintana, Borja Manuel Fernández‐Felix, Celia Pérez‐Cerdá, Begoña Merinero, Pedro Ruiz‐Sala, Francisco Arrieta, Mercedes Martínez‐Pardo   +7 more
wiley   +1 more source

Asociación entre acidosis metabólica y desnutrición en pacientes con enfermedad renal crónica en hemodiálisis [PDF]

, 2023
Una complicación de los pacientes con enfermedad renal crónica (ERC) que reciben hemodiálisis es la desnutrición. Existen diversos factores relacionados con la desnutrición, aunque aún es controversial su relación con la acidosis metabólica.
De la Cruz Nureña, Diego David
core  

Una causa inusual de acidosis metabólica severa: ayuno prequirúrgico

, 2014
ResumenObjetivosPresentación de un caso clínico y revisión no sistemática de la literatura sobre acidosis metabólica severa por ayuno prequirúrgico, su incidencia, etiología y fisiopatología.Materiales y métodosCon autorización del Comité de Ética de ...
Vega Sandoval, Carlos Augusto, Valencia Cárdenas, Ana Ruth, Laverde-Sabogal, Carlos Eduardo   +2 more
core   +2 more sources

Acidosis láctica asociada a metformina

, 2021
Lactic acidosis is an adverse reaction related to metformin and is the main etiology of metabolic acidosis. An annual incidence of lacticacidosis of 4.3 cases per 100 000 users of this drug has been reported, which is a considerable amount considering ...
Vallejos Narváez, Alvaro, González Alvarez, Juan Sebastián, Anzola Rincón, Astrid Stefanny, Lara Carvajal, María José, Camargo Alvarado, María Daniela, Abadía Mondragón, Natalia Margarita   +5 more
core   +1 more source

Prevalencia y factores asociados a acidosis metabólica en pacientes con trasplante renal [PDF]

, 2021
Introducción: En pacientes sometidos a trasplante renal, la presencia de acidosis metabólica (AMTR) continúa siendo una complicación prevalente y poco reconocida.
Medina Prado, Emmanuel, Emmanuel Medina Prado;CA1358497   +1 more
core  

Características de la alimentación de niños y adolescentes desnutridos con acidosis metabólica

, 2023
Objetivo: Identificar las características de la alimentación de niños y adolescentes desnutridos con acidosis. Métodos: Estudioobservacional, transversal controlado en 20 pacientes con diagnóstico de desnutrición, menores de 15 años de edad.
Martínez Manzano, José Luis, Camacho Camargo, Nolis, Altamiranda Pérez, Leidy   +2 more
core  

Más allá de la glucosa, complicaciones por uso de los nuevos antidiabéticos: reporte de caso

Práctica Familiar Rural
La cetoacidosis diabética euglucémica (CADeu) es una entidad emergente asociada al uso de inhibidores del cotransportador sodio-glucosa tipo 2 (iSGLT2), caracterizada por acidosis metabólica con anión gap elevado, cetosis y niveles de glucosa normales o
Roberto Carlos Proaño
doaj   +1 more source