Results 161 to 170 of about 1,777 (209)

Bone metabolism and bone mineral density in childhood hypophosphatasia

Bone, 1999
Childhood hypophosphatasia (HP) is an inborn error of bone metabolism, characterized by a reduced tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Bone mineral density (BMD) in childhood HP has not been reported so far. We measured BMD, in addition to markers of bone metabolism, in 6 boys with childhood HP (age 2-13 years) and in 10 ...
H J, Girschick, P, Schneider, K, Kruse, H I, Huppertz   +3 more
openaire   +4 more sources

Neurosurgical aspects of childhood hypophosphatasia

Child's Nervous System, 2008
Hypophosphatasia (HPP; MIM241510) is a rare inborn error of bone metabolism of recessive inheritance. It is caused by mutations in the gene encoding the tissue-nonspecific alkaline phosphatase. Apart from problems in bone mineralization, growth failure, and premature loss of decidual teeth, the infantile and the childhood types of HPP are associated ...
H, Collmann, E, Mornet, S, Gattenlöhner, C, Beck, H, Girschick   +4 more
openaire   +2 more sources

Childhood Hypophosphatasia With Homozygous Mutation of ALPL

Endocrine Practice, 2014
To describe an unusual phenotype of a case with rare homozygous ALPL gene mutation that results in mild form of hypophosphatasia.Case presentation, description of biochemical profiles, genetic testing and a brief review of literature are presented.A 13-year-old male presented with chronic left knee pain.
Supamit, Ukarapong, Shankar Srinivas, Ganapathy, Jaime, Haidet, Gary, Berkovitz   +3 more
openaire   +2 more sources

Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs

Bone, 1999
Hypophosphatasia (HP) is an inborn error of metabolism that is characterized by reduced bone mineralization. The aim of this investigation was to evaluate treatment of incapacitating lower limb pain in patients with childhood HP using nonsteroidal antiinflammatory drugs (NSAID).
H J, Girschick, H W, Seyberth, H I, Huppertz   +2 more
openaire   +2 more sources

Cranial manifestations of hypophosphatasia in childhood nephrotic syndrome

International Journal of Oral Surgery, 1984
A 7-year-old boy was referred to the children's hospital because of gross oedema and tiredness. Massive proteinuria was found and the condition was diagnosed as a childhood nephrotic syndrome. Concomitantly, pathologically low levels of serum alkaline phosphatase were recorded, and this, together with generalized osteoporosis and premature synostosis ...
J H, Meurman, P E, Hakala
openaire   +2 more sources

Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia

European Journal of Pediatrics, 2012
Hypophosphatasia is a hereditary disorder characterized by a deficiency of serum and bone alkaline phosphatase (ALP) activity and defective skeletal mineralization. It is caused by a loss of function mutations in the tissue nonspecific ALP gene (TNSALP) encoding the tissue nonspecific alkaline phosphatase.
Belma, Haliloglu, Tulay, Guran, Zeynep, Atay, Saygın, Abali, Etienne, Mornet, Abdullah, Bereket, Serap, Turan   +6 more
openaire   +2 more sources

Whole-body MRI in the childhood form of hypophosphatasia

Rheumatology International, 2010
Hypophosphatasia (HPP) is a rare inborn error of bone metabolism caused by various defects in the gene coding for the tissue-nonspecific alkaline phosphatase (TNSAP). It results in a reduced activity of the TNSAP and elevated concentrations of its substrates, including inorganic pyrophosphate.
C, Beck, H, Morbach, C, Wirth, M, Beer, H J, Girschick   +4 more
openaire   +2 more sources

Long-term follow-up of bone mineral density in childhood hypophosphatasia

Joint Bone Spine, 2007
Hypophosphatasia (HP; MIM 241510) is an inborn error of bone metabolism, characterized by a genetic defect in the gene of the tissue-non-specific alkaline phosphatase TNSALP. Long-term data on bone mineral density measurements are not available.We have analyzed changes of bone mineral density (pQCT and DXA) prospectively during 4years of follow-up in a
Hermann Josef, Girschick, Imme, Haubitz, Olaf, Hiort, Peter, Schneider   +3 more
openaire   +2 more sources

Mouthguards for a childhood hypophosphatasia patient to protect periodontal tissue of immature permanent teeth – Case report

Pediatric Dental Journal, 2021
Abstract Hypophosphatasia (HPP) is an inherited skeletal disorder that features early exfoliation of primary teeth as a major dental manifestation. A 6Y4M Japanese girl diagnosed with childhood HPP came to our clinic. Deep probing depth for all teeth and severe mobility of primary incisors were observed.
Tamami Kadota, Rena Okawa, Masatoshi Otsugu, Jumpei Ohata, Issei Hanaoka, Kazuhiko Nakano   +5 more
openaire   +1 more source

Early tooth loss in children: a warning sign of childhood hypophosphatasia

Dental Update, 2017
Premature exfoliation of primary teeth may be the first manifestation of this serious condition and the general dental practitioner plays an important role in recognizing dental anomalies and referring patients at an appropriate time. This is imperative to ensuring early diagnosis and good quality patient care.
Sara L, Hughes, Rachel C, Parkes, Nicholas, Drage, Mechelle, Collard   +3 more
openaire   +2 more sources