Results 41 to 50 of about 1,523 (155)

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia

JIMD Reports, 2021
Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth.
Olivia Sarah Strandbech, Allan Lund, Elsebet Ostergaard   +2 more
doaj   +1 more source

Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia

, 2013
Hypophosphatasia is a hereditary disorder characterized by a deficiency of serum and bone alkaline phosphatase (ALP) activity and defective skeletal mineralization.
BEREKET, ABDULLAH, DEMİRCİOĞLU, SERAP, GÜRAN, TÜLAY, HALİLOĞLU, BELMA   +3 more
core   +1 more source

Natural history of hypophosphatasia in Chinese patients younger than 18 years: a single-center retrospective observational study

Frontiers in Endocrinology
PurposeTo summarize the clinical features, natural history, and ALPL variant spectrum of Chinese children with hypophosphatasia (HPP), and to evaluate diagnostic features across clinical subgroups.MethodsThis single-center retrospective observational ...
Jingjie Luo, Min Liu, Xiaoya Ren, Meijuan Liu, Jiajia Chen, Xinmeng Wang, Zheng Yuan, Bingyan Cao, Chunxiu Gong   +8 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures

Clinical Genetics, EarlyView.
A novel rare variant of the OFD1 gene was identified in a family with dental hypoplasia, facial hypoplasia, and adult‐onset multiple atypical fractures of long bones. Another variant of the OFD1 gene was found in a woman with bisphosphonate‐associated atypical femur fracture.
Marie‐Ève Boisvert, Halim Maaroufi, Rachel Laframboise, Frédéric Fournier, Suzanne N. Morin, Edith Gagnon, Claudia Gagnon, Fabrice Mac‐Way, Mahmoud Rouabhia, Louis‐Georges Ste‐Marie, Arnaud Droit, Jacques P. Brown, Laëtitia Michou   +12 more
wiley   +1 more source

Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report

Journal of Medical Case Reports
Background Adult hypophosphatasia is an uncommon inherited disorder of mineral homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene, which encodes tissue-nonspecific alkaline ...
Shusuke Tokuchi, Toshihiro Kawano, Edward Hosea Ntege, Makoto Murahashi, Kentaro Ide, Nobuyuki Maruyama, Risako Suzuki, Mirei Takai-Nabeta, Tsuyoshi Nabeta, Hideo Tanaka, Yusuke Shimizu, Hiroyuki Nakamura   +11 more
doaj   +1 more source

Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia

Indian Journal of Endocrinology and Metabolism
Introduction: Hypophosphatasia (HPP) is a rare disorder, with only two genetically proven cases reported from India. Here, We report five Indian patients with genetically proven hypophosphatasia and describe their clinical, biochemical, and genetic ...
Melkunte S. Dhananjaya, S. Thrupti, Hamsa V. Reddy, Anusha Nadig, Kenchappa S. Adarsh, Swati Jadhav, Parvathy Lalitha, Sandhya Nair, Shaila Bhattacharyya, Anurag Lila, Vijaya Sarathi   +10 more
doaj   +1 more source

The oral microbiota and periodontal health in orthodontic patients

Periodontology 2000, EarlyView.
Abstract The oral microbiota develops within the first 2 years of childhood and becomes distinct from the parents by 4 years‐of‐age. The oral microbiota plays an important role in the overall health/symbiosis of the individual. Deviations from the state of symbiosis leads to dysbiosis and an increased risk of pathogenicity.
Brandon W. Peterson, Geerten‐Has Tjakkes, Anne‐Marie Renkema, David J. Manton, Yijin Ren   +4 more
wiley   +1 more source

Perinatal Hypophosphatasia in a Premature Infant

American Journal of Perinatology Reports, 2020
A premature male infant was delivered at 32 weeks' gestation due to category-2 fetal tracing after preterm labor. The physical exam showed shortened and bowed long bones, with calvarium felt in small area of the head.
Deepika Sankaran, Praveen K. Chandrasekharan, Munmun Rawat   +2 more
doaj   +1 more source