Results 41 to 50 of about 1,505 (162)

Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic Rickets

, 2010
<i>Introduction:</i> X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations.
Y. Zhao, L.Y. Phua, M. Chandran, C.L. Chng, Y.M. Bee, B.L. Clarke   +5 more
core   +1 more source

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

Multilocus mapping of the X-linked hypophosphatemic rickets gene

, 1992
X-linked hypophosphatemic rickets (HYP), the most common form of familial hypophosphatemic (vitamin D-resistant) rickets, is an X-linked dominant disorder characterized by decreased renal tubular phosphate reabsorption and consequent hypophosphatemia ...
Pericak-Vance, M A, Barker, D F, Econs, M J, Speer, M C, Fain, P R, Drezner, M K   +5 more
core   +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

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

Genomic Organization of the Human PEX Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets

, 1997
X-linked dominant hypophosphatemic rickets (HYP) is the most common form of hereditary rickets. Recently we have cloned thePEX gene and shown it to be mutated and deleted in HYP individuals.
Christina Steffens, Steffen Hennig, Thomas Meitinger, Bettina Lorenz, Sven Klages, Michele Cagnoli, Richard Reinhardt, Annett Böddrich, Claudine Oudet, Klaus L. Mohnike, Michael J. Econs, Katja Borzym, Fiona Francis, Thomas Pohl, Hans Lehrach, Oliver Brandau, Peter S.N. Rowe, Tim M. Strom   +17 more
core   +1 more source

Head Posture and Upper Spine Morphological Deviations in Patients With Hypermobile Ehlers–Danlos Syndrome

Orthodontics &Craniofacial Research, Volume 28, Issue 3, Page 555-563, June 2025.
ABSTRACT Objective To compare head posture and upper spine morphology in hypermobile Ehlers‐Danlos syndrome (hEDS) patients with healthy controls with neutral occlusion. Materials and Methods The study consisted of 27 hEDS patients (23 females, 4 males, mean age 36.41 ± 11.35) and 39 healthy controls (28 females, 11 males, mean age 31.85 ± 11.35) with ...
Ashkan Jasemi, Eva Fejerskov Lauridsen, Liselotte Sonnesen   +2 more
wiley   +1 more source

Ferric Carboxymaltose (FCM)–Associated Hypophosphatemia (HPP): A Systematic Review

American Journal of Hematology, Volume 100, Issue 5, Page 840-846, May 2025.
ABSTRACT Background Since 2015, ferric carboxymaltose (FCM), an intravenous (IV) iron formulation used for treating iron deficiency anemia (IDA), has been associated with an increasing number of reported hypophosphatemia (HPP) cases. Information on HPP clinical manifestations and incidence has not been reviewed.
Joseph Magagnoli, Kevin Knopf, William J. Hrushesky, Kenneth R. Carson, Charles L. Bennett   +4 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

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