Osteoporosis Associated with

Daniyeh Khurram, Kristyna Kupkova, Larry D Mesner, Andrew T Kraftson, Charles R Farber, Gregory A Clines

Abstract readCase Reports

In one paragraph

Article in JCEM case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

6 authors.

Daniyeh KhurramDivision of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan School of Medicine, Ann Arbor, MI 48109, USA.ORCID https://orcid.org/0000-0003-2678-6913

Kristyna KupkovaDepartment of Genome Sciences, School of Medicine, University of Virginia, Charlottesville, VA 22903, USA.ORCID https://orcid.org/0000-0002-6774-2709

Larry D MesnerDepartment of Genome Sciences, School of Medicine, University of Virginia, Charlottesville, VA 22903, USA.

Andrew T KraftsonDivision of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan School of Medicine, Ann Arbor, MI 48109, USA.ORCID https://orcid.org/0000-0002-8860-2588

Charles R FarberDepartment of Genome Sciences, School of Medicine, University of Virginia, Charlottesville, VA 22903, USA.ORCID https://orcid.org/0000-0002-6748-4711

Gregory A ClinesDivision of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan School of Medicine, Ann Arbor, MI 48109, USA.ORCID https://orcid.org/0000-0002-3755-7529

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 26-year-old man was evaluated for an elevated serum bone-specific alkaline phosphatase (BSAP). His medical history was significant for a neurodevelopmental disorder with generalized epilepsy. Symptoms included chronic pain in the ankles, hands, and right ribs, and a progressive decline in physical activity. Vitamin D deficiency was discovered, but the elevated BSAP persisted despite vitamin D replacement. Imaging studies reported diffusely increased scintigraphic uptake in the axial and appendicular skeleton, and low bone mineral density, but no radiographic sclerotic or lytic lesions. Genetic screening revealed a heterozygous pathogenic variant in the sodium voltage-gated channel α subunit 8 gene (

Indexed as

elevated alkaline phosphataseepilepsylow bone mineral densityosteoblastSCN8A mutation

Identifiers

PMID41267804

DOI10.1210/jcemcr/luaf239

PMCPMC12628794

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

Read underepoch 390

Registered trials

None linked

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.