Evidence map›Paper›PMID 40727947›Full record

ArticleMolecular genetics and metabolism reports2025

Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature.

Montaha Almudhry, Chitra Prasad, Keng Yow Tay, C Anthony Rupar, Harold Atkins, Asuri N Prasad

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Abnormal Splicing ofBiomedicines · 2025
    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

6 authors.

Montaha AlmudhryLondon Health Sciences Centre and Western University, London, Ontario, Canada.
Chitra PrasadLondon Health Sciences Centre and Western University, London, Ontario, Canada.
Keng Yow TayLondon Health Sciences Centre and Western University, London, Ontario, Canada.
C Anthony RuparLondon Health Sciences Centre and Western University, London, Ontario, Canada.
Harold AtkinsTransplant and Cell Therapy Program, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.
Asuri N PrasadLondon Health Sciences Centre and Western University, London, Ontario, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: To compare delayed-onset Krabbe disease (KD) and outcomes between two siblings in relation to allogeneic hematopoietic stem cell transplantation (HSCT). Methods: We provide a descriptive report on two siblings with late-onset KD and their clinical course before and after HSCT. Results: The index case presented with neurological symptoms that were presumptively diagnosed with multiple sclerosis (MS). Despite treatment with immunotherapy, the patient continued to decline progressively, prompting reassessment in the neurometabolic clinic 17 years after symptom onset. Symmetrical white matter changes in the pyramidal tract and optic radiation on MRI, absence of GALC enzyme activity in the blood, and identification of a pathogenic and likely pathogenic Discussion: Late-onset KD is clinically heterogeneous in presentation. Recognizing its progressive course, variable clinical features, positive family history (if present), and characteristic imaging can enable timely recognition. Earlier intervention with HSCT may modify the outcome.

Indexed as

Globoid-cell leukodystrophyHematopoietic stem cell transplantationKrabbe diseaseMultiple sclerosis

Identifiers

PMID40727947
PMCPMC12302766

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.