Cargando…

Impact of pediatric hypophosphatasia on behavioral health and quality of life

BACKGROUND: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase. It is characterized by defective bone mineralization associated with low alkaline phosphatase activity. Clinical features of pediatric...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pierpont, Elizabeth I., Simmons, Jill H., Spurlock, Katherine J., Shanley, Ryan, Sarafoglou, Kyriakie M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881480/ https://www.ncbi.nlm.nih.gov/pubmed/33579333 http://dx.doi.org/10.1186/s13023-021-01722-7

Ejemplares similares

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report
por: Westenfield, Kristen, et al.
Publicado: (2018)

Health-related quality of life in children with congenital adrenal hyperplasia
por: Halper, Alyssa, et al.
Publicado: (2017)

Physical Function and Health‐Related Quality of Life in Adults Treated With Asfotase Alfa for Pediatric‐Onset Hypophosphatasia
por: Genest, Franca, et al.
Publicado: (2020)

Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy
por: Wiersma, Rebecca E, et al.
Publicado: (2022)

Social behavior in RASopathies and idiopathic autism
por: Foy, Allison M. H., et al.
Publicado: (2022)

SUN-349 Characterizing Functional Performance in Adults with Hypophosphatasia
por: Dahir, Kathryn, et al.
Publicado: (2020)

Pharmacokinetics of Asfotase Alfa in Adult Patients With Pediatric‐Onset Hypophosphatasia
por: Pan, Wei‐Jian, et al.
Publicado: (2021)

Hypophosphatasia
por: Mornet, Etienne
Publicado: (2007)

Hypophosphatasia
por: Tournis, Symeon, et al.
Publicado: (2021)

SUN-251 Tanner Stage Adjustment of CDC Height Curves and Potential Clinical Applications
por: Addo, O. Yaw, et al.
Publicado: (2019)

Development of Tanner Stage–Age Adjusted CDC Height Curves for Research and Clinical Applications
por: Miller, Bradley S, et al.
Publicado: (2020)

Evaluation of alveolar bone hypomineralization in pediatric hypophosphatasia using orthopantomography
por: Okawa, Rena, et al.
Publicado: (2022)

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population
por: Glotov, Oleg S., et al.
Publicado: (2022)

Alkaline Phosphatase and Hypophosphatasia
por: Millán, José Luis, et al.
Publicado: (2015)

Update on the management of hypophosphatasia
por: Choida, V., et al.
Publicado: (2019)

Transformative therapy in hypophosphatasia
por: Bishop, Nick, et al.
Publicado: (2016)

Hypophosphatasia: The Unusual Presentation
por: Sergi, Consolato M.
Publicado: (2020)

Attention-Deficit/Hyperactivity Disorder Among US Children and Adolescents With Congenital Adrenal Hyperplasia
por: Harasymiw, Lauren A, et al.
Publicado: (2020)

Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL)
por: Tilden, Daniel R, et al.
Publicado: (2020)

Childhood hypophosphatasia: to treat or not to treat
por: Rush, Eric T.
Publicado: (2018)

Characterization of tracheobronchomalacia in infants with hypophosphatasia
por: Padidela, Raja, et al.
Publicado: (2020)

Clinical Practice Guidelines for Hypophosphatasia*
por: Michigami, Toshimi, et al.
Publicado: (2020)

Dental manifestation and management of hypophosphatasia()
por: Okawa, Rena, et al.
Publicado: (2022)

Hypophosphatasia: from birth to adulthood
por: Reis, Fernanda Salles, et al.
Publicado: (2023)

Cutaneous lesions in the setting of hypophosphatasia
por: Shen, Nancy W., et al.
Publicado: (2023)

SUN-529 Burden of Illness in Adults with Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry
por: Kishnani, Priya, et al.
Publicado: (2019)

rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia (PMM2 Deficiency)
por: Miller, Bradley S., et al.
Publicado: (2013)

Application of Deep Neural Networks as a Prescreening Tool to Assign Individualized Absorption Models in Pharmacokinetic Analysis
por: Jaber, Mutaz M., et al.
Publicado: (2021)

Individualized Absorption Models in Population Pharmacokinetic Analyses
por: Jaber, Mutaz M., et al.
Publicado: (2020)

Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype
por: Yauch, Lauren, et al.
Publicado: (2020)

An Unusual Stress Fracture in an Archer with Hypophosphatasia
por: Yavuz, Umut, et al.
Publicado: (2013)

Perinatal Hypophosphatasia in a Premature Infant
por: Sankaran, Deepika, et al.
Publicado: (2020)

Bisphosphonate Use and Fractures in Adults with Hypophosphatasia
por: Rassie, Kate, et al.
Publicado: (2019)

Identifying adult hypophosphatasia in the rheumatology unit
por: Feurstein, Julia, et al.
Publicado: (2022)

Growth and disease burden in children with hypophosphatasia
por: Högler, Wolfgang, et al.
Publicado: (2023)

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1
por: Pierpont, Elizabeth I., et al.
Publicado: (2018)

Assessment of Steroid Hormones in Both Saliva and Blood During a Phase 2 Clinical Trial for the Use of Tildacerfont in Adults With Classic Congenital Adrenal Hyperplasia
por: Keevil, Brian, et al.
Publicado: (2021)

Case Report: Anastrozole as a monotherapy for pre-pubertal children with non-classic congenital adrenal hyperplasia
por: Liu, Sandy C., et al.
Publicado: (2023)

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
por: Sugiyama, Yohei, et al.
Publicado: (2022)

SUN-353 Physical and Cognitive Functioning Before and Six Months After Initiating Enzyme Replacement Therapy for an Adult with Hypophosphatasia: A Case Study
por: Dahir, Kathryn, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_tmgqggg05hrgigg5762oqpf0ei