Results 61 to 70 of about 2,043 (190)

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

Pediatric Dermatology, Volume 42, Issue 3, Page 591-595, May/June 2025.
ABSTRACT We report a patient with clinically confirmed Schimmelpenning–Feuerstein–Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients ...
Hyvönen Hanna, Kettunen Kaisa, Avela Kristiina, Kivirikko Sirpa, Jeskanen Leila, Suominen Sinikka, Salminen Päivi, Hannula‐Jouppi Katariina   +7 more
wiley   +1 more source

Analysis of Thisbe and Pyramus functional domains reveals evidence for cleavage of Drosophila FGFs [PDF]

, 2010
Background: As important regulators of developmental and adult processes in metazoans, Fibroblast Growth Factor (FGF) proteins are potent signaling molecules whose activities must be tightly regulated.
Stathopoulos, Angelike, Tulin, Sarah
core   +4 more sources

Heterozygous Hereditary Vitamin D‐Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis

Case Reports in Endocrinology, Volume 2025, Issue 1, 2025.
This case report is centered on an atypical presentation of Hereditary Vitamin D‐dependent Rickets 2A (VDDR2A), a rare disorder caused by defects in the gene encoding the vitamin D receptor (VDR). While this disorder is primarily autosomal recessive in inheritance, this case demonstrates that a single heterozygous variant in the VDR gene could be ...
Risa Goldberg, Gunjan Umarji, Serge Jabbour, Hyunsik Kang   +3 more
wiley   +1 more source

Fibroblast Growth Factor 23 (FGF23) and Disorders of Phosphate Metabolism [PDF]

, 2009
Derangements in serum phosphate level result in rickets/osteomalacia or ectopic calcification indicating that healthy people without these abnormalities maintain serum phosphate within certain ranges.
Fukumoto, Seiji, Saito, Tasuku
core   +4 more sources

Orthodontic treatment in children and adolescent patients with X‐linked hypophosphatemia: A case–control study

Orthodontics &Craniofacial Research, Volume 27, Issue 5, Page 697-703, October 2024.
Abstract Objectives X‐linked hypophosphatemia (XLH) is a rare genetic disease that disturbs bone and teeth mineralization. It also affects craniofacial growth and patients with XLH often require orthodontic treatment. The aim of this study was to describe changes in the dental health of XLH children during orthodontic treatment compared with those in ...
Yann Janssens, Martin Biosse Duplan, Agnès Linglart, Anya Rothenbuhler, Catherine Chaussain, Elvire Le Norcy   +5 more
wiley   +1 more source

Prevalencia de manifestaciones bucales del raquitismo hipofosfatémico de pacientes atendidos en un Hospital pediátrico Peruano [PDF]

, 2020
Objective: To describe the prevalence of oral manifestations of hypophosphatemic rickets in patients treated in a Peruvian referral pediatric hospital during the years 2012-2016.
Cardenas-Zuñiga, Nathali, Chavez-Pastor, Miguel, Guevara-Canales, Janet Ofelia, Morales-Vadillo, Rafael, Trubnykova, Milana   +4 more
core   +1 more source

From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders [PDF]

, 2015
Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality.
De Vilder, eva, Vanakker, Olivier
core   +2 more sources

Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment

JIMD Reports, Volume 65, Issue 5, Page 341-353, September 2024.
Abstract Autosomal dominant Fanconi syndrome due to a GATM variant (GATM‐FS), causes accumulation of misfolded arginine‐glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM‐FS presents during childhood and progresses to end‐stage kidney disease (ESKD) in adults.
Ignacio Portales‐Castillo, Rhea Singal, Anastasia Ambrose, Jong Hee Song, Minsoo Son, Young Ah. Goo, Wen Zhou, Avram Z. Traum, Ariella Coler‐Reilly, Benjamin D. Humphreys, Roberto Civitelli, Harald Jüppner, Andrew L. Lundquist, Peter Seres, Andrew S. Allegretti, Saadet Mercimek‐Andrews   +15 more
wiley   +1 more source

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type [PDF]

, 2011
Background Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3 (1,25(OH)2D) serum levels.
A Beaumont, A Benet-Pages, A Carrascosa, ADHR Consortium, AF Ruchon, Ana Fontalba, Ana Medeira, Angeles Fernandez, Antonio Martínez-Peinado, B Lorenz-Depiereux, Berta Rodríguez, C Gaucher, Carmen García-Pardos, CB Langman, E Popowska, F Francis, Fernando Aleixandre, Gema Ariceta, GI Baroncelli, GM Kiebzak, HR Song, HS Tenenhouse, HY Cho, IA Holm, Ignacio Bernabeu, Itxaso Rica, Jaime Vila-Cots, Jesús Barreiro, José M Díaz-Grande, José M García-Sagredo, José M Millán, José Nieto, L Beck, Leandro Soriano-Guillén, Lidia Castro-Feijóo, Loreto Martorell, Lourdes Loidi, Lourdes Rey-Cordo, M Khajavi, Manuel Pombo, Marcos Morey, Marta Gil, MJ Econs, ML Lipman, Oana Moldovan, Paloma Cabanas, PD Stenson, PH Dixon, PS Rowe, PS Rowe, Ramón Vilalta, S Clausmeyer, S Ichikawa, S Liu, S Liu, Saioa Juaristi, Sixto García-Miñaur, T Shimada, TD Blydt-Hansen, The HYP Consortium, TO Carpenter, V Levy-Litan, WN Addison, Y Sabbagh, Y Sabbagh, Y Sabbagh, Y Yamazaki   +66 more
core   +5 more sources