Results 81 to 90 of about 1,777 (209)

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

Development and validation of a modified performance-oriented mobility assessment tool for assessing mobility in children with hypophosphatasia

Journal of Pediatric Rehabilitation Medicine, 2018
PURPOSE: To modify the Performance-Oriented Mobility Assessment-Gait (POMA-G) subtest and validate this modified POMA-G (mPOMA-G) in children with hypophosphatasia (HPP), a rare metabolic disorder that can manifest with musculoskeletal symptoms that ...
Dawn Phillips, Donna Griffin, Tracy Przybylski, Erica Morrison, Amy L. Reeves, Marc Vallee, Kenji P. Fujita, Katherine L. Madson   +7 more
doaj   +1 more source

Managing the patient with osteogenesis imperfecta: a multidisciplinary approach [PDF]

, 2017
Osteogenesis imperfecta (OI) is a heterogeneous heritable connective tissue disorder characterized by low bone density. The type and severity of OI are variable.
Bishop, N., Marr, C., Seasman, A.
core   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review

BMC Pediatrics, 2019
Objective Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP).
Xiaojian Mao, Sichi Liu, Yunting Lin, Zhen Chen, Yongxian Shao, Qiaoli Yu, Haiying Liu, Zhikun Lu, Huiyin Sheng, Xinshuo Lu, Yonglan Huang, Li Liu, Chunhua Zeng   +12 more
doaj   +1 more source

A systematic review and meta-analysis of childhood health utilities [PDF]

, 2018
Background: A common feature of most reviews or catalogues of health utilities has been their focus on adult health states or derivation of values from adult populations.
Kim, Sung Wook, Kwon, J., Madan, Jason, Petrou, Stavros, Tsiplova , K., Ungar, W. J.   +5 more
core   +1 more source

Deficiency of Tissue Nonspecific Alkaline Phosphatase Dysregulates Microglial Morphology and Function in a Mouse Model of Infantile Hypophosphatasia

Journal of Neurochemistry, Volume 170, Issue 3, March 2026.
Using male and female tissue‐nonspecific alkaline phosphatase (TNAP) knockout (KO) and wild type (WT) mice, we show TNAP loss impairs growth and sensorimotor function and induces marked microglial morphological changes (enlarged soma, retracted processes).
Kareem Elaswad, Yara Mashal, Iyah Nasser, Linna Almhanaa, Chloe Grabowski, Zhi Zhang   +5 more
wiley   +1 more source

Reprogramming of peripheral blood mononuclear cells from a patient with hypophosphatasia to generate iPSC line (UOMi011-A)

Stem Cell Research
Hypophosphatasia (HPP) is a rare inherited metabolic disorder predominantly affecting bones and teeth. HPP can manifest throughout the life cycle from in utero, to perinatal and infantile (before 6 months of age) presentations, to onset in childhood ...
Abhay Srivastava, Niketa Sareen, Cheryl Rockman-Greenberg, Sanjiv Dhingra   +3 more
doaj   +1 more source

Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children

Orphanet Journal of Rare Diseases, 2020
Background Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP (ORPHA 436).
Marius Vogt, Hermann Girschick, Tilmann Schweitzer, Clemens Benoit, Annette Holl-Wieden, Lothar Seefried, Franz Jakob, Christine Hofmann   +7 more
doaj   +1 more source

Outlook Magazine, Fall 2002 [PDF]

, 2002
https://digitalcommons.wustl.edu/outlook/1147/thumbnail ...

core   +1 more source