Article in JIMD reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 45% of its field
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
1 citing paper in PubMed, 1 citations in OpenAlex.
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
8 authors at 1 institution in 1 country.
Shelby L MillsDepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USA.ORCID https://orcid.org/0000-0003-4396-9586
Paige RobertsDepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USA.
Myla AshfaqDepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USA.
Kathryn LealDepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USA.
Hope NorthrupDepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USA.
Deborah L BrownDepartment of Pediatrics, Division of Hematology Oncology McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USA.
David Rodriguez-BuriticaDepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USA.
Laura S FarachDepartment of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USA.
Memorial Hermann · US
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Arginase deficiency (ARG1-D) is an autosomal recessive inborn error of metabolism that is often misdiagnosed. Classic presentation of ARG1-D includes progressive symptoms of spasticity, delayed development, cognitive impairment, protein avoidance, and seizures. Patients who present atypically may evade diagnosis and require a thoughtful diagnostic workup. Here, we discuss three females of Latin American origin with differing clinical presentations, but who all have the same intronic pathogenic variant in
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.
Arginase deficiency masked by cerebral palsy and coagulopathy-Three varied presentations of Latin American origin. · full record | OpenQuestion