Results 11 to 20 of about 62,890 (168)

Current Topics of Progressive Cardiac Conduction Disease [PDF]

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
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.
Naokata Sumitomo, Hitoshi Mori, Takashi Kumamoto, Taisuke Ishikawa, Akiko Seki, Naomasa Makita, Jean‐Jacques Schott, Arthur A. M. Wilde   +7 more
wiley   +2 more sources

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

JIMD Reports, Volume 66, Issue 4, July 2025.
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.
V. Laufs, A. Hasenburg, M. A. Busch, F. Lang, D. Macchiella, E. Mildenberger, L. Seidmann, J. B. Hennermann   +7 more
wiley   +2 more sources

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

JIMD Reports, Volume 63, Issue 4, Page 371-378, July 2022., 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 ...
Stefanie Maier, Miroslav Zivicnjak, Lorenz Grigull, Julia B. Hennermann, Charlotte Aries, Britta Maecker‐Kolhoff, Martin Sauer, Anibh M. Das, Rita Beier   +8 more
wiley   +2 more sources

Predisposition to metabolic acidosis induced by topiramate Predisposição a acidose metabólica induzida por topiramato [PDF]

Arquivos de Neuro-Psiquiatria, 2000
RATIONALE: Metabolic acidosis induced by topiramate is a well documented but infrequent adverse event. The objective was to demonstrate the lowering of carbon dioxide serum levels, which is usually asymptomatic but may facilitate the occurrence of ...
MARIA AUGUSTA MONTENEGRO, MARILISA M. GUERREIRO, ANNA ELISA SCOTONI, CARLOS A.M. GUERREIRO   +3 more
doaj   +3 more sources

Acidosis dilucional, a propósito de una paciente tratada en el Hospital San Juan de Dios de Santa Fe de Bogotá

Revista de la Facultad de Medicina, 1999
La acidosis metabólica, definida como una reducción del pH arterial (pHa) de causa no respiratoria, es decir con una PaC02 < 40 mm Hg, es uno de los disbalances homeostáticos que más preocupan al clínico.
Alonso Gómez D., Gilberto Fernández R., Álvaro Gutiérrez G., Luis Carlos Daza B.   +3 more
doaj   +1 more source

Acidosis láctica severa y leucemia aguda [PDF]

Anales de la Facultad de Medicina, 2004
Reportamos el caso de una paciente de 27 años de edad con leucemia linfoblástica aguda, quien presentó acidosis láctica severa como complicación metabólica. Ella acudió con desnutrición severa, anemia marcada y síndrome consuntivo.
David Loja, Maricela Vilca, Ricardo Postigo, Aimee Torres, José Alvizuri   +4 more
doaj   +2 more sources

Síndrome de desmielinización osmótica secundaria a corrección de acidosis metabólica con bicarbonato de sodio. Reporte de caso [PDF]

Revista Médica Herediana
El síndrome de desmielinización osmótica (SDO) es una complicación neurológica que se produce por la corrección rápida de la hiponatremia. Se presenta el caso de una mujer de 79 años con hiporexia y constipación de 4 semanas de evolución.
Sergio Vasquez-Kunze, Carlo Arrunátegui Bermejo, Homarh Villaverde Pelaez   +2 more
doaj   +2 more sources

Hipoglicemia neonatal: Un caso de galactosemia

Acta Biológica Colombiana, 2001
Se presenta la historia clínica de un recien nacido con un cuadro de hipoglicemia, que posteriormente desarrolla hiperbilirrubinemia conjugada, hepatomegalia, acidosis metabólica con anion gap aumentado y lactato normal e infeccion por E ...
Y. Cifuentes, C. Arteaga, M. Bermúdez
doaj   +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