Results 41 to 50 of about 1,934 (207)

Verbal Dyspraxia and Galactosemia [PDF]

Pediatric Research, 2003
Classical galactosemia is an autosomal recessive disorder resulting from deficient galactose-1-phosphateuridyl transferase (GALT) activity. Verbal dyspraxia is an unusual outcome in galactosemia. Here we validated a simplified breath test of total body galactose oxidation against genotype and evaluated five potential biochemical risk indicators for ...
Mary Jane Kennedy, Louis J. Elsas, Rani H. Singh, Amy L Webb   +3 more
openaire   +2 more sources

Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Citrin deficiency (CD) is a complex mitochondrial disease with three different age‐related stages: neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia caused by CD (FTTDCD), and type II citrullinemia (CTLN2), recently renamed adolescent and adult CD (AACD).
Denis Lacabanne, Alice P. Sowton, Bosco Jose, Edmund R. S. Kunji, Sotiria Tavoulari   +4 more
wiley   +1 more source

Errores Congénitos del Metabolismo en edad pediátrica [PDF]

, 2013
Los Errores Congénitos del Metabolismo son trastornos poco frecuentes de forma aislada pero en su conjunto suponen un capítulo relevante de la patología pediátrica.
Baña Souto, Ana María
core   +1 more source

Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review

JIMD Reports, Volume 66, Issue 2, March 2025.
ABSTRACT Recent advancements in new‐born screening have reduced the risk of life‐threatening complications associated with inherited metabolic disorders. However, the risk of negative psychosocial effects on families persists. The aim of the present study was to systematically review the literature concerning the psychosocial challenges experienced by ...
Clara Sherlock, Kim Clarke, Norah Jordan
wiley   +1 more source

Embracing the future: Neonatal screening for epileptic syndromes

Epilepsia, EarlyView.
Rima Nabbout, Mathieu Kuchenbuch
wiley   +1 more source

Blazing the Trail of Non‐Invasive Prenatal Screening Expanded Use: Healthcare Providers' Perspectives

Prenatal Diagnosis, Volume 45, Issue 2, Page 163-170, February 2025.
ABSTRACT Objective Advancements in non‐invasive prenatal screening (NIPS) could significantly alter prenatal screening by expanding the range of genetic conditions screened. This study aims to explore the perspectives of healthcare professionals (HCP) on the expanded use of NIPS and explore specifications for the inclusion of genetic conditions ...
Tierry M. Laforce, Anne‐Marie Laberge, Marie‐Françoise Malo, Vardit Ravitsky   +3 more
wiley   +1 more source

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Newborn screening (NBS) is one of the most effective measures of secondary prevention. While the benefit of NBS on the clinical long‐term outcomes of children with inherited metabolic diseases (IMD) has been demonstrated, the potential burden of families living with an early diagnosed and treated child with an IMD has not been thoroughly ...
Elena Schnabel‐Besson, Sven F. Garbade, Florian Gleich, Sarah C. Grünert, Johannes Krämer, Eva Thimm, Julia B. Hennermann, Peter Freisinger, Peter Burgard, Gwendolyn Gramer, Marina A. Morath, A. Tunç Tuncel, Svenja Keßler, Georg F. Hoffmann, Stefan Kölker, Ulrike Mütze   +15 more
wiley   +1 more source

Resultados del programa de pesquisaje neonatal de errores innatos del metabolismo en Las Tunas

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Fundamento: la pesquisa de diversas enfermedades neonatales tiene importancia para la salud pública. La detección precoz y el tratamiento de las enfermedades metabólicas disminuyen los indicadores de morbilidad y mortalidad, permitiendo mejorar la ...
Madelin Rodríguez Cruz, Maidelina Cardoso Paredes, Sonia Iris Hipolit Fernández   +2 more
doaj  

Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
ABSTRACT Hereditary fructose intolerance (HFI) is characterized by liver damage and a secondary defect in N‐linked glycosylation due to impairment of mannose phosphate isomerase (MPI). Mannose treatment has been shown to be an effective treatment in a primary defect in MPI (i.e., MPI‐CDG), which is also characterized by liver damage.
Amée M. Buziau, Dirk J. Lefeber, D. Cassiman, M. Estela Rubio‐Gozalbo, Hanneke Kwast, Dean R. Tolan, Casper G. Schalkwijk, Martijn C. G. J. Brouwers   +7 more
wiley   +1 more source

Is Early Menopause a Different Entity From Premature Ovarian Insufficiency?

Clinical Endocrinology, Volume 102, Issue 1, Page 67-74, January 2025.
ABSTRACT Premature ovarian insufficiency (POI, defined as age at menopause < 40 years) affects 1%–3% of postmenopausal women. It is positively associated with an increased risk of diabetes mellitus, arterial hypertension, cardiovascular disease, osteoporosis, fractures, cognitive impairment, and depression.
Panagiotis Anagnostis, Irene Lambrinoudaki, Dimitrios G. Goulis   +2 more
wiley   +1 more source