Results 11 to 20 of about 466 (133)

Current Topics of Progressive Cardiac Conduction Disease. [PDF]

J Arrhythm
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Sumitomo N, Mori H, Kumamoto T, Ishikawa T, Seki A, Makita N, Schott JJ, Wilde AAM.   +7 more
europepmc   +2 more sources

Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia. [PDF]

JIMD Rep
ABSTRACT Little is known about pregnancies and placental changes in women with glycogen storage disease type Ia (GSD Ia). We report on two primipara with GSD Ia who both developed preeclampsia and whose newborns were small for gestational age. Both placentas showed sonomorphological and macroscopical abnormalities.
Laufs V, Hasenburg A, Busch MA, Lang F, Macchiella D, Mildenberger E, Seidmann L, Hennermann JB.   +7 more
europepmc   +2 more sources

Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation. [PDF]

JIMD Rep, 2022
Abstract Mucopolysaccharidosis type I (MPS I) is an autosomal‐recessive metabolic disorder caused by an enzyme deficiency of lysosomal alpha‐l‐iduronidase (IDUA). Haematopoietic stem cell transplantation (HSCT) is the therapeutic option of choice in MPS I patients younger than 2.5 years, which has a positive impact on neurocognitive development ...
Maier S, Zivicnjak M, Grigull L, Hennermann JB, Aries C, Maecker-Kolhoff B, Sauer M, Das AM, Beier R.   +8 more
europepmc   +2 more sources

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment

Journal of Inherited Metabolic Disease, Volume 46, Issue 6, Page 1063-1077, November 2023., 2023
Abstract Newborn screening (NBS) allows early identification of individuals with rare disease, such as isovaleric aciduria (IVA). Reliable early prediction of disease severity of positively screened individuals with IVA is needed to guide therapeutic decision, prevent life‐threatening neonatal disease manifestation in classic IVA and over ...
Ulrike Mütze, Lucy Henze, Julian Schröter, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, René Santer, Eva Thimm, Regina Ensenauer, Johannes Weigel, Skadi Beblo, Maria Arélin, Julia B. Hennermann, Iris Marquardt, Peter Freisinger, Johannes Krämer, Andrea Dieckmann, Natalie Weinhold, Katharina A. Schiergens, Esther M. Maier, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker   +23 more
wiley   +1 more source

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

Journal of Inherited Metabolic Disease, Volume 46, Issue 6, Page 1043-1062, November 2023., 2023
Abstract Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programmes worldwide. Every extension requires a careful evaluation of feasibility, diagnostic (process) quality and possible health benefits to balance benefits and limitations.
Esther M. Maier, Ulrike Mütze, Nils Janzen, Ulrike Steuerwald, Uta Nennstiel, Birgit Odenwald, Elfriede Schuhmann, Amelie S. Lotz‐Havla, Katharina J. Weiss, Johanna Hammersen, Corina Weigel, Eva Thimm, Sarah C. Grünert, Julia B. Hennermann, Peter Freisinger, Johannes Krämer, Anibh M. Das, Sabine Illsinger, Gwendolyn Gramer, Junmin Fang‐Hoffmann, Sven F. Garbade, Jürgen G. Okun, Georg F. Hoffmann, Stefan Kölker, Wulf Röschinger   +24 more
wiley   +1 more source

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

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