Results 41 to 50 of about 870 (139)

Transient Cytopenias as a Rare Presentation of Classic Galactosemia

Cureus, 2022
Although galactosemia can be detected through neonatal screening, some cases are characterized by rapid and severe presentation before screening results become available. We report the case of a neonate with classic galactosemia presenting with acute liver failure and cytopenias (thrombocytopenia, anemia, and neutropenia).
Gianniki, Maria, Nikaina, Irini, Avgerinou, Georgia, Kanaka-Gantenbein, Christina, Siahanidou, Tania   +4 more
openaire   +2 more sources

Classic galactosemia [PDF]

, 2018
Despite many years of research, there is still no effective treatment for classic galactosemia, a congenital metabolic disease. Patients develop damage to the ovaries, brain and bones, which leads to debilitating limitations. This PhD dissertation includes the development of a new animal model to obtain more knowledge about the disease and to develop ...
openaire   +1 more source

Brain function in classic galactosemia, a galactosemia network (GalNet) members review [PDF]

Frontiers in Genetics
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychological/social emotional difficulties, neurological symptoms, and abnormalities in neuroimaging and ...
Bianca Panis, Bianca Panis, Bianca Panis, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Annet M. Bosch, Annet M. Bosch, Martijn C. G. J. Brouwers, Martijn C. G. J. Brouwers, Alberto Burlina, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, María L. Couce, Anibh M. Das, Anibh M. Das, Didem Demirbas, Aurélie Empain, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Elisa Leão-Teles, Dorothea Möslinger, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Katrin Õunap, Adriana Pané, Adriana Pané, Sabrina Paci, Sabrina Paci, Rossella Parini, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo, M. Estela Rubio-Gozalbo   +61 more
openaire   +12 more sources

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +1 more source

Voice disorders in children with classic galactosemia [PDF]

Journal of Inherited Metabolic Disease, 2010
AbstractChildren with classic galactosemia are at risk for motor speech disorders resulting from disruptions in motor planning and programming (childhood apraxia of speech or CAS) or motor execution (dysarthria). In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with ataxic dysarthria, and 3% with mixed CAS ...
openaire   +3 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

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

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

A case of neonatal galactosemia presenting with rare hematologic problems: factor V deficiency and hemophagocytic lymphohistiocytosis

The Turkish Journal of Pediatrics
Background. In the neonatal period, classical galactosemia usually presents with nonspecific clinical signs such as feeding intolerance, jaundice, lethargy, hypotonia, vomiting, and failure to thrive.
Şule Toprak, Ümran Koral, Serdar Alan, Hacer Fulya Gülerman, Meryem Albayrak   +4 more
doaj   +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