Evidence map›Paper›PMID 39663303›Full record

ReviewEndocrine2025

Diagnosis, treatment, and follow-up of patients with hypophosphatasia.

Juan Guillermo Cárdenas-Aguilera, Vladimir González-López, Ana María Zarante-Bahamón, Juan Carlos Prieto-Rivera, Richard Baquero-Rodríguez, Kelly Rocío Chacón-Acevedo, Adriana Isabel Meza-Martínez, Ana Katherina Serrano-Gayubo, Adriana Medina-Orjuela, Jimena Adriana Cáceres-Mosquera and 15 more

Abstract readReview
In one paragraph

Review in Endocrine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors.

Juan Guillermo Cárdenas-AguileraSubred Integrada de Servicios de Salud Sur Occidente, Bogotá, Colombia. cardenasjg@javeriana.edu.ORCID 0000-0003-2963-3971
Vladimir González-LópezAsociación Colegio Colombiano de Endocrinología Pediátrica, Bogotá, Colombia.ORCID 0000-0001-7693-3315
Ana María Zarante-BahamónHospital Universitario San Ignacio, Bogotá, Colombia.ORCID 0000-0002-2244-0838
Juan Carlos Prieto-RiveraPontificia Universidad Javeriana, Facultad de Medicina, Bogotá, Colombia.ORCID 0000-0001-8706-0775
Richard Baquero-RodríguezUniversidad de Antioquia, Facultad de Medicina, Medellín, Colombia.ORCID 0000-0003-1805-005X
Kelly Rocío Chacón-AcevedoGrupo de Investigación Traslacional, Keralty, Bogotá, Colombia.ORCID 0000-0003-4843-7036
Adriana Isabel Meza-MartínezInstituto Roosevelt, Bogotá, Colombia.ORCID 0000-0001-9584-3446
Ana Katherina Serrano-GayuboUniversidad de Antioquia, Facultad de Medicina, Medellín, Colombia.ORCID 0000-0003-0584-7844
Adriana Medina-OrjuelaHospital San José, Bogotá, Colombia.ORCID 0000-0002-6190-6805
Jimena Adriana Cáceres-MosqueraClínica Infantil Santa Maria del Lago, Bogotá, Colombia.ORCID 0000-0002-9813-6189
Gustavo Adolfo Guerrero-TinocoUniversidad de Cartagena, Bolívar, Colombia.ORCID 0000-0003-1253-4934
María Fernanda García-RuedaInstituto Roosevelt, Bogotá, Colombia.ORCID 0000-0001-9173-1121
Pilar Guarnizo-ZuccardiFundación Cardioinfantil, Bogotá, Colombia.ORCID 0000-0002-2841-8922
Gilberto Herrera-OrtizClínica Comfamiliar, Risaralda, Colombia.ORCID 0000-0002-9611-7742
Carolina Rojas-BarreraFundación Hospital de la Misericordia, Bogotá, Colombia.ORCID 0000-0002-3591-4449
Martha Isabel Carrascal-GuzmánUniversidad del Valle, Cali, Colombia.ORCID 0000-0003-0844-1436
María Fernanda Reina-ÁvilaFundación Hospital de la Misericordia, Bogotá, Colombia.ORCID 0000-0002-3566-3176
Sletza Lissette Arguinzoniz-ValenzuelaCentro Médico ABC, Ciudad de México, México.ORCID 0000-0002-3527-6635
Leticia Belmont-MartínezInstituto Nacional De Pediatría, Ciudad de México, México.ORCID 0000-0002-3691-3659
Mariana Del-PinoHospital de Pediatría Garrahan, Buenos Aires, Argentina.ORCID 0000-0001-6095-7080
Gisela Lorena ViterboSociedad Latinoamericana de Endocrinología Pediátrica, Buenos Aires, Argentina.ORCID 0000-0002-3416-8755
Mariana SeijoInstituto de Inmunología, Genética y Metabolismo, Buenos Aires, Argentina.ORCID 0000-0002-9398-0196
Joan Calzada-HernándezHospital Sant Joan de Déu, Barcelona, España.ORCID 0000-0002-8348-739X
Norma Elizabeth Guerra-HernándezHospital General del Centro Médico Nacional La Raza, Ciudad de México, México.ORCID 0000-0003-1658-7152
Oscar Héctor BrunettoHospital de Niños Pedro de Elizalde, Buenos Aires, Argentina.ORCID 0000-0002-4096-2330

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionHypophosphatasia is a rare inherited systemic metabolic disorder, with an estimated prevalence in the severe forms of the disease of 1/100.000-1/300.000, that affects the typical architecture of bone, leading to defective mineralization during growth and remodeling. It is characterized by loss-of-function variants in the ALPL gene, resulting in low activity of tissue-nonspecific alkaline phosphatase. In severe cases, it can be fatal.

objectiveTo generate recommendations on the diagnosis, treatment, and follow-up of patients with hypophosphatasia based on available evidence. MATERIALS AND

methodsA search for evidence published between 2012 and 2024 was carried out in Medline and Embase. The search was expanded with information from various sources, including official sites of development groups, consensuses, technology evaluations, Google Scholar, clinical experts, and reference lists. The quality of the evidence was evaluated according to the type of document type. A modified Delphi consensus process was carried out with external experts, apart from the development group, it was established an 80% agreement threshold to define the final recommendations.

resultsSixty-one papers were found in the evidence search. The global quality of the evidence was low. In addition, a consensus was reached on 94 recommendations regarding diagnosis, treatment, and follow-up. Those recommendations were approved by external clinical experts from Colombia, Argentina, Spain, and Mexico.

conclusionsThe recommendations proposed in this document are based on the evidence available to the date the search was carried out, and the judgment of clinical experts. The recommendations on diagnosis, treatment, and follow-up are expected to guide the daily clinical practice for patients with HPP.

Indexed as

HypophosphatasiaAlkaline PhosphataseHumansAlkaline PhosphataseALPL protein, humanAlkaline phosphataseConsensus(DeCS): HypophosphatasiaDiagnosisTreatment

Identifiers

PMID39663303
PMCPMC11811241

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.