Results 201 to 210 of about 9,342 (275)

Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia. [PDF]

Osteoporos Int
Alvarez S, Ocampo A, Caso PC, Del Real A, Puente N, Vega AI, Riancho-Zarrabeitia L, García-Unzueta MT, Riancho JA.   +8 more
europepmc   +1 more source

Bridging the knowledge gap in rare bone disorders: insights from the APCO Asia-Pacific Rare Bone Disorders Engagement (ASPIRE) survey. [PDF]

Osteoporos Int
Chandran M, Javaid MK, Newell T, Kaur S, Clifton-Bligh R, Munns CF, Trombetti A, Bhadada SK, Ebeling PR, Mithal A, Brandi ML.   +10 more
europepmc   +1 more source

DIAGNOSTICS OF THE INHERITED HYPOPHOSPHATASIA

, 2009
E.S. Otroshchenko, T.V. Vashurina, А.Н. Цыгин, E.N. Tsygina, V.K. Tatochenko   +4 more
openalex   +1 more source

POS1427 ALTERED MITOCHONDRIAL BIOENERGETICS IN HYPOPHOSPHATASIA AND THE INFLUENCE OF EFZIMFOTASE ALFA

Dale P. DeVore, J. Ruanova, W.C. Voegtli, Dallas Dunn, Jochen Decker, Mark A. Tarnopolsky, Maurizio Mazzantini, Vincenzo De Tata, Maria Concetta Scavuzzo, Francesca Conti, Anna Petryk, Maria Luisa Brandi   +11 more
openalex   +1 more source

[Hypophosphatasia].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1974
A, Meberg, T, Torstenson
openaire   +1 more source

Correlations between 6-minute walk test, chair-rise test, and lower extremity functional scale among patients with hypophosphatasia. [PDF]

Bone Rep
Seefried L, Genest F.
europepmc   +1 more source

Asfotase alfa restores PLP-dependent GABA, cystathionine, and amino acid metabolism in a mouse model of hypophosphatasia

Kathryn N. Phoenix, Andre J. Marozsan, Susan Liu‐Chen, Lizhong Zhang, Amit Mogha, Yat Wa Wong, Catherine A. Brownstein, Raja Padidela   +7 more
openalex   +1 more source

Inadequate pediatric reference ranges impede the diagnosis of X-linked hypophosphatemia and hypophosphatasia in Austria. [PDF]

Wien Klin Wochenschr
Steininger J, Jablonska M, Sagmeister S, Mindler G, Raimann A.   +4 more
europepmc   +1 more source

Patient-derived reference intervals for alkaline phosphatase to support appropriate utility for isoenzymes determinations and hypophosphatasia [PDF]

Jonathan Joseph, Ibrahim A. Hashim
openalex   +1 more source

<i>Alpl</i> ablation in dental epithelium disrupts ameloblasts and incisor enamel mineralization in male mice. [PDF]

JBMR Plus
Mohamed FF, Shahid S, Millán JL, Foster BL.   +3 more
europepmc   +1 more source