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Learn About X-Linked Hypophosphatemia

What is the definition of X-Linked Hypophosphatemia?
X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets). XLH is usually diagnosed in childhood. Features include bowed or bent legs, short stature, bone pain, and severe dental pain. XLH is caused by genetic changes in the PHEX gene on the X chromosome, and inheritance is X-linked dominant.
What are the alternative names for X-Linked Hypophosphatemia?
  • X-linked hypophosphatemia
  • HPDR
  • Hypophophatemia, X-linked
  • Hypophophatemic vitamin D-resistant rickets
  • Hypophosphatemic rickets, X-linked dominant
  • Vitamin D-Resistant Rickets, X-linked
  • X-linked hypophosphatemic rickets
  • XLH
Who are the top X-Linked Hypophosphatemia Local Doctors?
Advanced in X-Linked Hypophosphatemia
Pediatric Endocrinology | Pediatrics
Advanced in X-Linked Hypophosphatemia
Pediatric Endocrinology | Pediatrics
2516 Stockton Blvd Ste 384, 
Sacramento, CA 
 (18.0 mi)
Languages Spoken:
English

Stephanie Christensen is a Pediatric Endocrinologist and a Pediatrics provider in Sacramento, California. Dr. Christensen and is rated as an Advanced provider by MediFind in the treatment of X-Linked Hypophosphatemia. Her top areas of expertise are X-Linked Hypophosphatemia, Malnutrition, and Vitamin D Deficiency.

Experienced in X-Linked Hypophosphatemia
Internal Medicine
Experienced in X-Linked Hypophosphatemia
Internal Medicine

Regents Of The University Of California

4860 Y St, 
Sacramento, CA 
 (17.6 mi)
Languages Spoken:
English
Accepting New Patients

Jin Xu is an Internal Medicine provider in Sacramento, California. Dr. Xu and is rated as an Experienced provider by MediFind in the treatment of X-Linked Hypophosphatemia. Her top areas of expertise are Pancreatic Ductal Adenocarcinoma, Pancreatic Islet Cell Tumor, Insulinoma, Pancreatectomy, and Pancreaticoduodenectomy. Dr. Xu is currently accepting new patients.

 
 
 
 
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Experienced in X-Linked Hypophosphatemia
Pediatrics | Endocrinology | Pediatric Endocrinology
Experienced in X-Linked Hypophosphatemia
Pediatrics | Endocrinology | Pediatric Endocrinology

Regents Of The Univ Of Ca

2521 Stockton Blvd, 
Sacramento, CA 
 (17.8 mi)
Languages Spoken:
English

Lindsey Loomba is a Pediatrics specialist and an Endocrinologist in Sacramento, California. Dr. Loomba and is rated as an Experienced provider by MediFind in the treatment of X-Linked Hypophosphatemia. Her top areas of expertise are Type 1 Diabetes (T1D), Brachydactyly, Wilson Disease, and Short Stature (Growth Disorders).

What are the latest X-Linked Hypophosphatemia Clinical Trials?
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center