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Identification of the first reported splice site mutation (IVS7-1G--A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia

Autor: J R, Toone, D A, Applegarth, M B, Coulter-Mackie, E R, James

Publikováno v: Human mutation. 17(1)

A novel splice site mutation (IVS7-1G--A) in the T-protein gene (aminomethyltransferase, or AMT) of the glycine cleavage enzyme complex was found in a patient with nonketotic hyperglycinemia (NKH). A PCR/restriction enzyme method to detect this mutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4ea3a06694a932775121c360985c1b9b
https://pubmed.ncbi.nlm.nih.gov/11139253

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Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses

Autor: D A, Applegarth, J R, Toone, M O, Rolland, S H, Black, D K, Yim, G, Bemis

Publikováno v: Prenatal diagnosis. 20(5)

We report three false negative prenatal diagnostic results, using direct measurement of glycine cleavage enzyme activity in uncultured chorionic villus tissue from 290 pregnancies at risk for non-ketotic hyperglycinaemia (NKH). Testing was done by tw

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1b35fb4db9fed14429e117430596379e
https://pubmed.ncbi.nlm.nih.gov/10820402

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Prenatal diagnosis of non-ketotic hyperglycinemia

Autor: J. T. Wong, B. McGillivray, J. R. Toone, Derek A. Applegarth, L. T. Kirby, Harvey L. Levy, Vivian E. Shih

Publikováno v: Prenatal Diagnosis. 6:257-263

We describe successful prenatal diagnosis in four pregnancies at risk for non-ketotic hyperglycinemia, two affected and two unaffected, using the glycine level and the glycine/ serine ratio in amniotic fluid obtained at 16 weeks gestational age. Alth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf3b6f5cac4dd40944a0e8a6d07fcd87
https://doi.org/10.1002/pd.1970060405

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Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred

Autor: T. M. Holmes, R. J. Carter, R. B. Lowry, James F. Reynolds, Richard L. Wesenberg, John M. Opitz, Kenneth Morgan, R. D. Dewar, G. A. Machin, Derek A. Applegarth, Floyd F. Snyder, J. R. Toone

Publikováno v: American Journal of Medical Genetics. 22:463-475

A patient is described who has Morquio syndrome (MPS IVA). He is a member of the Hutterite Brethren and genealogic analysis discloses a high inbreeding coefficient for the proband. The proband's sibship is segregating two autosomal recessive disorder

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7344d5efcd3cea8cac38608e9d8749bd
https://doi.org/10.1002/ajmg.1320220304

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Use of placental enzyme analysis in assessment of the newborn at risk for nonketotic hyperglycinaemia (NKH)

Autor: D. A. Applegarth, J. R. Toone

Publikováno v: Journal of Inherited Metabolic Disease. 12:281-285

The incidence of non-ketotic hyperglycinaemia (NKH), McKusick 23830, in the population of British Columbia, Canada was found to be the same as that reported for Finland. We present the plasma glycine levels in ten non-ketotic hyperglycinaemia patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7aa0859e43a61b6c87d6b05a7646f9f
https://doi.org/10.1007/bf01799218

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Carrier detection in Sanfilippo A syndrome

Autor: D. A. Applegarth, J. R. Toone

Publikováno v: Clinical genetics. 33(6)

Leucocytes or fibroblasts from 10 obligate heterozygotes for Sanfilippo A syndrome gave decreased heparan N-sulphatase levels, using a modification of the method of Hall et al. (1978), which did not overlap normal control values. Five family members

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aba421f5f820ed4222deab09bfa7b999
https://pubmed.ncbi.nlm.nih.gov/3139339

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Argininosuccinic aciduria. A developmental and biochemical case study

Autor: D, Margalith, J U, Crichton, L, Wong, A G, Davidson, D A, Applegarth, J R, Toone

Publikováno v: Journal of the neurological sciences. 60(2)

An infant with argininosuccinic aciduria was detected through the routine newborn screening program for inborn metabolic diseases and has been followed for over 7 years. Treatment consisting of restricted protein intake and arginine base supplementat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::015a2d8f881570690b4c4537d77fb5d2
https://pubmed.ncbi.nlm.nih.gov/6886731

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Morquio disease presenting as hydrops fetalis and enzyme analysis of chorionic villus tissue in a subsequent pregnancy

Autor: R. D. Wilson, D. A. Applegarth, V. J. Baldwin, J. R. Toone, Siu-Li Yong

Publikováno v: Pediatric pathology. 7(5-6)

We describe the prenatal diagnosis of a fetus at risk for mucopolysaccharidosis (MPS) Type IVA (Morquio syndrome) using enzyme analysis of chorionic villus tissue. The family had two previous affected children, one with progressive nonimmune hydrops

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaadf52a195697922b2e40d44561d186
https://pubmed.ncbi.nlm.nih.gov/3130620

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