PMID: 6409799Jan 1, 1983Paper

Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family

Human Genetics
J J van GemundW J Kleijer

Abstract

Two sisters and one brother, all with normal intelligence and no evidence of neurological abnormality, present progressive spondyloepiphyseal dysplasia, stunted growth, corneal opacities, and increased keratansulfaturia. Cultured skin fibroblasts from one of the children showed a remarkable deficiency of acid beta-galactosidase in association with normal activities of N-acetylgalactosamine-6-sulfate sulfatase and sialidase. Acid beta-galactosidase was also deficient in leukocytes of two children. Leukocytes of the parents exhibited intermediate activities, which suggests the primary nature of beta-galactosidase deficiency. Patients with MPS IV-B may be severely affected.

References

Jan 2, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·J J Fortuin, W J Kleijer
Jan 1, 1977·American Journal of Medical Genetics·J W Spranger
Apr 16, 1975·Clinica Chimica Acta; International Journal of Clinical Chemistry·K O Liem, G J Hooghwinkel
Apr 1, 1976·The Journal of Clinical Investigation·J SinghD Tavella
Aug 30, 1976·Human Genetics·W J KleijerM F Niermeijer
Apr 16, 1975·Clinica Chimica Acta; International Journal of Clinical Chemistry·R Humbel, M Collart
Nov 27, 1974·Biochemical and Biophysical Research Communications·R MatalonA Dorfman
Oct 1, 1966·Klinische Wochenschrift·W Teller, A Ziemann
May 31, 1968·Science·S Okada, J S O'Brien
Nov 1, 1956·Clinica Chimica Acta; International Journal of Clinical Chemistry·N DI FERRANTE, C RICH
Oct 1, 1962·Analytical Biochemistry·T BITTER, H M MUIR

❮ Previous
Next ❯

Citations

Jul 26, 2012·Case Reports in Medicine·Annalisa Di CesareArrigo Giombini
Jan 31, 2012·Environmental Monitoring and Assessment·Sebastián GualaEmma F Covelo
Apr 1, 1986·Clinical Genetics·M BeckJ Spranger
Dec 1, 1993·Anaesthesia and Intensive Care·M R Nott, W H al Hajaj
Feb 20, 2020·JIMD Reports·Iman S AbumansourSylvia Stockler-Ipsiroglu
May 18, 2000·International Journal of Paediatric Dentistry·I RøllingS Sindet-Pedersen
Mar 6, 2002·Indian Journal of Pediatrics·Jayesh J ShethRaktima Bhattacharya

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.