Results 71 to 80 of about 1,106 (149)

Correction to: Classical galactosemia

Orphanet Journal of Rare Diseases, 2020
1. Author M. Estela Rubio Gozalbo’s first and last names were captured incorrectly. The author’s first names are M. Estela, while last names are Rubio Gozalbo. The correct author’s name has been updated in the original article [1] and shown in the author list of this Correction. 2. In Table 2 ‘Digit span’ and ‘GIT-2’ are tests and should be preceded by
Welsink-Karssies, Mendy M., Oostrom, Kim J., Hermans, Merel E., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Oussoren, Esmee, Rubio Gozalbo, M. Estela, de Vries, Maaike, Geurtsen, Gert J., Bosch, Annet M.   +10 more
openaire   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta

Molecular Genetics and Metabolism Reports
Background: Galactosemia type I is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase deficiency, encoded by GALT.
Nihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, Shailly Ghai-Jain, Iveta Sosova, Alicia Chan, Saadet Mercimek-Andrews   +6 more
doaj   +1 more source

Fertility preservation in female classic galactosemia patients [PDF]

Orphanet Journal of Rare Diseases, 2013
Abstract Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and physicians are often asked about possible options to preserve fertility.
van Erven, Britt, Gubbels, Cynthia S, van Golde, Ron J, Dunselman, Gerard A, Derhaag, Josien G, de Wert, Guido, Geraedts, Joep P, Bosch, Annet M, Treacy, Eileen P, Rubio-Gozalbo, M Estela, Welt, Corrine, Berry, Gerard   +11 more
openaire   +8 more sources

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Glycogen Storage Disease in Twins: When Two Lives Reflect One Silent Battle

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Early recognition of hepatomegaly, hypoglycemia, and elevated liver enzymes in infants is crucial for diagnosing glycogen storage disease. Liver biopsy with PAS–diastase staining provides definitive confirmation. Prompt metabolic management and regular follow‐up are essential to prevent progression of fibrosis and long‐term hepatic ...
Rajat Kumar Shah, Sajjad Ahmed Khan, Dikshya Devkota, Manjisha Aryal, Nishan Subedi, Basna Aryal, Binita Gurubacharya, Shamin Parajuli, Ashwini Gupta, Surya Bahadur Parajuli, Huma Kausar   +10 more
wiley   +1 more source

Early diagnosis of classic galactosemia in the first week of life: A case series and implications for national newborn screening policy

Medicine Science
Classic galactosemia is an autosomal recessive metabolic disorder with an estimated incidence of 1 in 24,000 in countries where consanguinity is common.
Mahli Batuhan Ozdogar, Dilem Eris, Muzaffer Coskun, Ozgur Olukman   +3 more
doaj   +1 more source

Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin‐511 in Early Neurodevelopment

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Childhood apraxia of speech (CAS) is characterized by motor discoordination in the speech domain and also in fine and gross motor systems, implicating the early developing cerebellum. Comorbidity with autism spectrum disorder (ASD) and other neurodevelopmental conditions has been observed. The genetic etiology is highly heterogeneous.
Caitlin Raaz, Laurel Bruce, Madhavi Ganapathiraju, Judith Klein-Seetharaman, Li Liu, Valentin Dinu, Marjan Chapi, Eunhyo Kim, Yookyung Kim, Tiffanie White, Beate Peter, Balraj Mittal   +11 more
wiley   +1 more source

Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia

Scientific Reports, 2017
Patients with classic galactosemia, a genetic metabolic disorder, encounter cognitive impairments, including motor (speech), language, and memory deficits.
Britt van Erven, Bernadette M. Jansma, M. Estela Rubio-Gozalbo, Inge Timmers   +3 more
doaj   +1 more source

Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia

Disease Models & Mechanisms, 2012
SUMMARY Despite neonatal diagnosis and life-long dietary restriction of galactose, many patients with classic galactosemia grow to experience significant long-term complications.
Emily L. Ryan, Brian DuBoff, Mel B. Feany, Judith L. Fridovich-Keil   +3 more
doaj   +1 more source