Results 81 to 90 of about 4,392 (235)

Beyond Nutritional Deficiency: Persistent Rickets as a Manifestation of Vitamin D‐Dependent Rickets Type II in a Toddler

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Vitamin D‐dependent rickets type II (VDDR‐II) is a rare hereditary disorder caused by mutations in the vitamin D receptor gene, resulting in resistance to active vitamin D and impaired calcium absorption. We report a 2‐year and 6‐month‐old female toddler presenting with persistent rickets, delayed motor milestones, dental abnormalities, and ...
Abhisek Jha, Anil Yadav, Uma Shankar Jha, Preethuja Shah, Rohan Kumar Shah, Kuldeep Timilsina, Prabha Jha, Aabish Dahal, Saugat Bagale   +8 more
wiley   +1 more source

Recent Utilization of Pediatric Extrapolation and Modeling and Simulation Approaches in Pediatric Drug Development in Japan

The Journal of Clinical Pharmacology, Volume 65, Issue 12, Page 1889-1899, December 2025.
Abstract In Japan, the percentage of approved drugs with pediatric indications increased to 30% in 2010‐2015, but no further increase was observed through 2020. The Ministry of Health, Labor, and Welfare in Japan presented draft future directions to promote pediatric drug development, where the modeling and simulation (M&S) approach was introduced as a
Akinori Nakashima, Akihide Tsujimoto, Masako Saito, Jun Takeda, Makiko Natori, Satoshi Shoji   +5 more
wiley   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Phosphate, Fractures, and Frustration—A Missed Diagnosis of Oncogenic Osteomalacia Leading to Multisystem Complication

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Persistent hypophosphatemia must prompt thorough evaluation. This case highlights the severe, multisystem consequences of delayed recognition of oncogenic osteomalacia. Early biochemical assessment, imaging, and multidisciplinary involvement are critical to avoid misdiagnosis and prevent irreversible complications such as skeletal fragility ...
Ryan Michael Wilson, Lydia Sturridge
wiley   +1 more source

X‐linked hypophosphatemic rickets: Enamel abnormalities and oral clinical findings [PDF]

Scanning, 2014
SummaryX‐linked hypophosphatemia (XLH) is a genetic disorder related to alterations in bones and teeth formation, due to low levels of phosphate in blood. Oral findings in XLH have been enamel and dentine abnormalities, high pulp horns, large pulp chambers, and some cases of periapical abscesses related to teeth without caries or traumatic injuries ...
Ilaria, Cremonesi, Cesare, Nucci, Giovanni, D'Alessandro, Nadia, Alkhamis, Silvia, Marchionni, Gabriela, Piana   +5 more
openaire   +2 more sources

Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded

MedComm, Volume 6, Issue 7, July 2025.
Phosphate serves as a building block for physiological mineralization, and as a signaling molecule that regulates the activity of mineralizing cells. The disturbance in these processes could induce a series of pathological mineralization, with abnormal mineralization of hard tissues and ectopic mineralization of soft tissues being the most ...
Wen Qin, San‐yang Yu, Jia‐lu Gao, Jian‐fei Yan, Qian‐qian Wan, Shuai‐lin Jia, Franklin Tay, Kai Jiao, Lina Niu   +8 more
wiley   +1 more source

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

Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant

Journal of Investigative Medicine High Impact Case Reports, 2015
Loss-of-function mutations in the p hosphate regulating gene with h omologies to e ndopeptidases on the X -chromosome ( PHEX ) have been causally associated with X-linked hypophosphatemic rickets (XLHR).
Kok Siong Poon BSc, Andrew Anjian Sng MBBS, MRCPCH, Cindy Weili Ho MBBS, MRCPCH, Evelyn Siew-Chuan Koay PhD, FRCPath, FAACB, Kah Yin Loke MBBS, MRCP (UK), FRCPCH   +4 more
doaj   +1 more source

New insights into NPP1 function:Lessons from clinical and animal studies [PDF]

, 2012
The recent elucidation of rare human genetic disorders resulting from mutations in ectonucleotide pyrophosphotase/phosphodiesterase (ENPP1), also known as plasma cell membrane glycoprotein 1 (PC-1), has highlighted the vital importance of this molecule ...
Huesa, C, Mackenzie, N C W, Macrae, V E, Rutsch, F   +3 more
core   +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