Results 51 to 60 of about 1,106 (149)

Classic galactosemia: features of diagnosis and treatment

Zdorovʹe Rebenka, 2018
Background. Galactosemia type I, or classic galactosemia (CG), is the most severe form of hereditary disorders of carbohydrate metabolism, in particular, galactose. Galactosemia is not included in the program of massive neonatal screening in Ukraine. The
N.O. Pichkur, N.V. Olkhovych, Ya.I. Doronina   +2 more
doaj   +1 more source

Outcomes analysis of verbal dyspraxia in classic galactosemia [PDF]

Genetics in Medicine, 2000
This study evaluates a genotype/phenotype relationship between developmental verbal dyspraxia (DVD) and the common, missense mutation of the galactose-1-phosphate uridyltransferase gene, Q188R, in patients with classic galactosemia (G/G).As part of this study, we devised a questionnaire for "speech problems" to be completed by the patient\'s clinician.
A, Robertson, R H, Singh, N V, Guerrero, M, Hundley, L J, Elsas   +4 more
openaire   +2 more sources

Hormone therapy (HT) in women with premature ovarian insufficiency or early menopause: Time to think of a new paradigm for healthy aging. A joint FIGO and IMS position paper

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Premature ovarian insufficiency (POI) and early menopause (EM) affect millions of women worldwide. Compared with normal menopause, they confer a longer duration of estrogen deficiency and are associated not only with a shorter lifespan, but with a reduced healthspan, owing to an increased risk of cardiovascular, skeletal, cognitive and ...
Chiara Benedetto, Suvarna S. Khadilkar, Rossella E. Nappi, Andrea R. Genazzani, Federica Frezet, Laura Cucinella, Hema Divakar, Panagiotis Anagnostis, Nick Panay   +8 more
wiley   +1 more source

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience

Clinical Case Reports
Galactosemia is a rare autosomal recessive metabolic disorder with four main types, and classic galactosemia is the most prevalent. These patients have galactose‐1‐phosphate‐uridyltransferase deficiency.
Mohammadreza Alaee, Hedyeh Saneifard, Marjan Shakiba, Marjan Hanifeh, Shirin Moarefian   +4 more
doaj   +1 more source

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers [PDF]

Brain Communications, 2020
Abstract Early diagnosis and dietary treatment do not prevent long-term complications, which mostly affect the central nervous system in classical galactosemia patients. The clinical outcome of patients is highly variable, and there is an urgent need for prognostic biomarkers.
Welsink-Karssies, M.M., Ferdinandusse, S., Geurtsen, G.J., Hollak, C.E., Huidekoper, H.H., Janssen, M.C.H., Janssen, M.C.H., Langendonk, J.G., van der Lee, J.H., O'Flaherty, R., Oostrom, K.J., Roosendaal, S.D., Rubio-Gozalbo, M.E., Saldova, R., Treacy, E.P., Vaz, F.M., de Vries, M.C., Engelen, M., Bosch, A.M.   +18 more
openaire   +7 more sources

Clinically Diagnosed Decompensated Chronic Liver Disease With Suspected Portal Hypertension in a One‐Year‐Old Infant: Diagnostic Challenges in a Resource‐Limited Setting

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Chronic liver disease in infancy is uncommon, diagnostically demanding, and rarely reported from sub‐Saharan Africa, where advanced hepatologic evaluation is seldom accessible. We describe a one‐year‐old boy from rural Somaliland who presented with a two‐week history of progressive abdominal distension, followed by jaundice, hematemesis and ...
Khadar Jama Ibrahim, Abdisamed Mohamoud H. Ali, Nouradin Ibrahim Omer, Omer Ali Elmi   +3 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Classical galactosemia

, 2021
Classical Galactosemia is an inborn error of metabolism, a disease in which galactose (milk sugar) is not processed correctly in the cells of the body. The enzyme galactose-1-phosphate uridylyltransferase (GALT) is an enzyme essential for one of the steps in the conversion of galactose into glucose, which is used by the body for energy.
openaire   +3 more sources

Classic Galactosemia Presenting with Unilateral Peters’ Anomaly [PDF]

Medical Principles and Practice, 2010
<i>Objective:</i> To report a case of classic galactosemia that presented with a rare ocular finding, Peters’ anomaly. <i>Clinical Presentation and Intervention:</i> A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice.
Hadeel, Faras, Fayka, Al-Raqum, Dina, Ramadan   +2 more
openaire   +2 more sources

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source