Die Hypophosphatasie (HPP) ist eine seltene, angeborene Knochen- und Systemerkrankung, welche Patienten allen Alters betrifft. Verursacht wird die Erkrankung durch Mutationen im ALPL-Gen, welches für die gewebeunspezifische Alkalische Phosphatase codiert und mit einem Funktionsverlust des Enzyms einhergeht. Die Ausprägung der klinischen Symptomatik ist sehr heterogen und reicht von milden und unspezifischen bis hin zu potenziell lebensbedrohlichen Symptomen, was die korrekte Diagnose zusätzlich erschwert und verzögert. Um das Verständnis der pädiatrischen HPP zu verbessern und die Dauer von Symptombeginn bis zur korrekten Diagnose zu verkürzen, haben wir den Verlauf der Erkrankung anhand einer retrospektiven Aufarbeitung der Daten von 50 p...
Hipofosfatazija (HP) je rijetka nasljedna metabolička bolest kostiju čije je glavno biokemijsko obil...
Diese Studie evaluiert die Mundgesundheit von Hypophosphatasie (HPP)-Patienten und beinhaltet die Un...
Objectives: Low activity of serum alkaline phosphatase (ALP) is a hallmark of hypophosphatasia (HPP)...
Background Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-functi...
he authors present the latest data on the hypophosphatasia (HPP) management in children. Hypophospha...
Abstract Background Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dy...
Hypophosphatasia (HPP) is an inherited metabolic disease caused by loss-of-function mutations in the...
(1) Hypophosphatasia (HPP) is a rare inherited disease caused by mutations (pathogenic variants) in ...
Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tiss...
Background. Hypophosphatasia is rare hereditary disease caused by deficiency of the tissue-nonspecif...
Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) within the gene TNSALP that encodes...
Hypophosphatasie (HPP) ist eine seltene genetische Erkrankung mit einem breiten Spektrum an biochemi...
Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tiss...
Hypophosphatasia (HPP) is a group of inherited disorders characterised by the impaired mineralisatio...
<p>The paper gives up-to-date information on hypophosphatasia in children. It represents the results...
Hipofosfatazija (HP) je rijetka nasljedna metabolička bolest kostiju čije je glavno biokemijsko obil...
Diese Studie evaluiert die Mundgesundheit von Hypophosphatasie (HPP)-Patienten und beinhaltet die Un...
Objectives: Low activity of serum alkaline phosphatase (ALP) is a hallmark of hypophosphatasia (HPP)...
Background Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-functi...
he authors present the latest data on the hypophosphatasia (HPP) management in children. Hypophospha...
Abstract Background Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dy...
Hypophosphatasia (HPP) is an inherited metabolic disease caused by loss-of-function mutations in the...
(1) Hypophosphatasia (HPP) is a rare inherited disease caused by mutations (pathogenic variants) in ...
Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tiss...
Background. Hypophosphatasia is rare hereditary disease caused by deficiency of the tissue-nonspecif...
Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) within the gene TNSALP that encodes...
Hypophosphatasie (HPP) ist eine seltene genetische Erkrankung mit einem breiten Spektrum an biochemi...
Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tiss...
Hypophosphatasia (HPP) is a group of inherited disorders characterised by the impaired mineralisatio...
<p>The paper gives up-to-date information on hypophosphatasia in children. It represents the results...
Hipofosfatazija (HP) je rijetka nasljedna metabolička bolest kostiju čije je glavno biokemijsko obil...
Diese Studie evaluiert die Mundgesundheit von Hypophosphatasie (HPP)-Patienten und beinhaltet die Un...
Objectives: Low activity of serum alkaline phosphatase (ALP) is a hallmark of hypophosphatasia (HPP)...