ReviewAmerican journal of human genetics1994
"Pseudodeficiencies" of lysosomal hydrolases.
Review in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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.
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.
Who cites it
14 citing papers in PubMed.
- Novel Phenotypic Insights into theInternational journal of neonatal screening · 2025Article
- Case Report: Novel Arylsulfatase A (Frontiers in neurology · 2020Article
- Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.Human mutation · 2014Review
- Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.Molecular genetics and metabolism · 2014Article
- Lysosomal storage disorders: molecular basis and laboratory testing.Human genomics · 2011Review
- A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.BMC medical genetics · 2009Article
- Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?Journal of inherited metabolic disease · 2001Review
- Prenatal diagnosis of lysosomal storage diseases.Brain pathology (Zurich, Switzerland) · 1998Article
- Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.Journal of medical genetics · 1997Article
- Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.Journal of medical genetics · 1996Article
- Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.American journal of human genetics · 1996Article
- Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.Journal of medical genetics · 1995Article
- A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.American journal of human genetics · 1995Article
- Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.American journal of human genetics · 1994Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
7911004PMC1918197What OpenQuestion holds
Registered trials
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.