Results 21 to 30 of about 62,890 (168)
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 +19 more
wiley +1 more source
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 +16 more
wiley +1 more source
Debilidad y acidosis metabólica: la anamnesis es la respuesta [PDF]
, 2018 Weakness secondary to the loss of muscle strength is a frequent reason for consultation in the emergency ser- vices and includes a wide spectrum of differential diagnoses.
Gutiérrez-Sanjuán, Oscar Iván +7 more
core +1 more source
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 +5 more
core +2 more sources
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 +26 more
wiley +1 more source
Circulating anions usually associated with the Krebs cycle in patients with metabolic acidosis [PDF]
, 2005 Introduction: Acute metabolic acidosis of non-renal origin is usually a result of either lactic or ketoacidosis, both of which are associated with a high anion gap.
Treacher, David F +17 more
core +1 more source
Una causa inusual de acidosis metabólica severa: ayuno prequirúrgico
, 2020 Objetivos: Presentación de un caso clínico y revisión no sistemática de la literatura sobre acidosis metabólica severa por ayuno prequirúrgico, su incidencia, etiología y fisiopatología.
Laverde-Sabogal, Carlos Eduardo +2 more
core +2 more sources
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 +2 more
core
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
Metabolic Acidosis in Children: A Literature Review [PDF]
, 2023 Metabolic acidosis is characterised by a primary decrease in the serum bicarbonate concentration, a secondary decrease in the arterial partial pressure of CO2, and a reduction in blood pH.
Preeti Shanbag, Syed Ahmed Zaki
core +1 more source