Found: 28
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Effect of red cell transfusions, thymic hormone and deoxycytidine in severe combined immunodeficiency due to adenosine deaminase deficiency.
- Published in:
- Clinical & Experimental Immunology, 1982, v. 49, n. 2, p. 303
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- Publication type:
- Article
Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency.
- Published in:
- Clinical & Experimental Immunology, 1978, v. 34, n. 1, p. 42
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- Publication type:
- Article
A population study of Lesch-Nyhan disease in the UK.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 1, p. 34, doi. 10.1111/j.1469-8749.2010.03786.x
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- Publication type:
- Article
Two views on UK research.
- Published in:
- Nature, 1984, v. 310, n. 5979, p. 620, doi. 10.1038/310620a0
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- Publication type:
- Article
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 360, doi. 10.1007/s00439-002-0798-z
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- Publication type:
- Article
Leadership, Education and Awareness: A Compassionate Care Nursing Initiative.
- Published in:
- Nursing Leadership (1910-622X), 2015, v. 28, n. 1, p. 53, doi. 10.12927/cjnl.2015.24233
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- Publication type:
- Article
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 145
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- Publication type:
- Article
A high performance liquid chromatographic assay for AMP-deaminase activity in the erythrocytes of healthy subjects and patients with inherited purine disorders.
- Published in:
- Biomedical Chromatography, 1991, v. 5, n. 4, p. 171, doi. 10.1002/bmc.1130050407
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- Publication type:
- Article
The high performance liquid chromatography of enzyme systems relating to purine and pyrimidine metabolism: an overview.
- Published in:
- Biomedical Chromatography, 1990, v. 4, n. 6, p. 267, doi. 10.1002/bmc.1130040613
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- Publication type:
- Article
Use of biological fluids for the rapid diagnosis of potentially lethal inherited disorders of human purine and pyrimidine metabolism.
- Published in:
- Biomedical Chromatography, 1986, v. 1, n. 3, p. 109, doi. 10.1002/bmc.1130010305
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- Publication type:
- Article
Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency.
- Published in:
- Clinical & Experimental Immunology, 1987, v. 70, n. 3, p. 491
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- Publication type:
- Article
Prenatal diagnosis of three cases of severe combined immunodeficiency: severe T cell deficiency during the first half of gestation in fetuses with adenosine deaminase deficiency.
- Published in:
- Clinical & Experimental Immunology, 1984, v. 56, n. 2, p. 223
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- Publication type:
- Article
B cells as well as T cells form deoxynucleotides from either deoxyadenosine or deoxyguanosine.
- Published in:
- Clinical & Experimental Immunology, 1984, v. 56, n. 1, p. 39
- By:
- Publication type:
- Article
Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.
- Published in:
- 1998
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- Publication type:
- journal article
An examination of the moral habitability of resource-constrained obstetrical settings.
- Published in:
- Nursing Ethics, 2021, v. 28, n. 6, p. 1026, doi. 10.1177/0969733020988311
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- Publication type:
- Article
Nurse's narratives of moral identity: Making a difference and reciprocal holding.
- Published in:
- Nursing Ethics, 2018, v. 25, n. 3, p. 324, doi. 10.1177/0969733016648206
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- Publication type:
- Article
Sustaining hope as a moral competency in the context of aggressive care.
- Published in:
- Nursing Ethics, 2015, v. 22, n. 7, p. 743, doi. 10.1177/0969733014549884
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- Publication type:
- Article
Narratives of aggressive care: Knowledge, time, and responsibility.
- Published in:
- 2014
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- Publication type:
- Journal Article
AUTONOMY AND ADVOCACY IN PERINATAL NURSING PRACTICE.
- Published in:
- Nursing Ethics, 2008, v. 15, n. 3, p. 360, doi. 10.1177/0969733007088360
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- Publication type:
- Article
Nutrition and Gout.
- Published in:
- Nutrition Bulletin, 1990, v. 15, n. 3, p. 169, doi. 10.1111/j.1467-3010.1990.tb00088.x
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- Publication type:
- Article
Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children.
- Published in:
- Pediatric Nephrology, 1998, v. 12, n. 5, p. 357, doi. 10.1007/s004670050466
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- Publication type:
- Article
4-Pyridone-3-carboxamide-1-β-D-ribonucleoside Triphosphate (4PyTP), a Novel NAD<sup /> Metabolite Accumulating in Erythrocytes of Uremic Children: A Biomarker for a Toxic NAD<sup /> Analogue in Other Tissues?
- Published in:
- Toxins, 2011, v. 3, n. 6, p. 520, doi. 10.3390/toxins3060520
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- Publication type:
- Article
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient.
- Published in:
- Nephrology Dialysis Transplantation, 2004, v. 19, n. 3, p. 736
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- Publication type:
- Article
HPRT-APRT-deficient Mice Are Not a Model for Lesch-Nyhan Syndrome.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1607, doi. 10.1093/hmg/5.10.1607
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- Publication type:
- Article
Endothelial cell cytoprotection induced in vitro by allo- or xenoreactive antibodies is mediated by signaling through adenosine A2 receptors.
- Published in:
- European Journal of Immunology, 2003, v. 33, n. 11, p. 3127, doi. 10.1002/eji.200323566
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- Publication type:
- Article
Aprt/ Opn double knockout mice: Osteopontin is a modifier of kidney stone disease severity.
- Published in:
- Kidney International, 2005, v. 68, n. 3, p. 938, doi. 10.1111/j.1523-1755.2005.00487.x
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- Publication type:
- Article
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation.
- Published in:
- Kidney International, 2003, v. 63, n. 5, p. 1645, doi. 10.1046/j.1523-1755.2003.00903.x
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- Publication type:
- Article
Pregnancy and infant loss: a survey of families' experiences in Ontario Canada.
- Published in:
- 2019
- By:
- Publication type:
- journal article