Case Reports [Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report] [Article in Japanese] Takeshi
[pubmed.ncbi.nlm.nih.gov]
Partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency was found in the propositus and an asymptomatic maternal uncle.
[ncbi.nlm.nih.gov]
Abstract The mutation in a young gouty male with a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase has been evaluated.
[dx.doi.org]
Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; Kelley-Seegmiller syndrome 1 ORPHA79233
[catalogue.rd-connect.eu]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Infantile Krabbe disease Infantile Refsum disease Infantile
[se-atlas.de]
[…] guanine phosphoribosyltransferase partial deficiency;HPRT deficiency, grade I HPRT partial deficiency; HPRT-related gout; HPRT-related hyperuricemia; HPRT1 partial deficiency
[catalogue.rd-connect.eu]
Neonatal Adrenoleukodystrophy, Neuroblastoma, NICCD, Ornithine transcarbamylase deficiency, Orotic aciduria, Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase
[geno.ma]
(MUT), Mevalonic aciduria, Mitochondrial trifunctional protein deficiency, Multiple carboxylase deficiency, N-acetylglutamate / Carbamyl phosphate synthetase deficiency,
[geno.ma]
Methylmalonic acidemia (MMA) - Cbl C, D, Methylmalonic aciduria, cblA and cblB forms (MMA, Cbl A,B), Methylmalonic semialdehyde dehydrogenase deficiency, Methylmalonyl-CoA mutase deficiency
[geno.ma]
Patients with a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase without self-mutilation do not exhibit these abnormalities of adrenergic function.
[science.sciencemag.org]
Isolated xanthine oxidase deficiency Lesch Nyhan syndrome Lesch-Nyhan syndrome Muscle AMP deaminase deficiency Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
[icd9data.com]
Kogut MDDonnell GNNyhan WLSweetman L Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: a study of a family.
[doi.org]
Isolated xanthine oxidase deficiency Lesch-Nyhan syndrome Muscle AMP deaminase deficiency Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Purine-nucleoside
[emedcodes.com]
Isolated xanthine oxidase deficiency Lesch Nyhan syndrome Lesch-Nyhan syndrome Muscle AMP deaminase deficiency Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
[icd9data.com]
Isolated xanthine oxidase deficiency Lesch-Nyhan syndrome Muscle adenosine monophosphate deaminase deficiency Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
[healthprovidersdata.com]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual
[se-atlas.de]
Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine
[se-atlas.de]
Isolated xanthine oxidase deficiency Lesch Nyhan syndrome Lesch-Nyhan syndrome Muscle AMP deaminase deficiency Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
[icd9data.com]
[…] of pyrimidine metabolism Hereditary orotic aciduria, type 2 Hereditary xanthinuria Hooft's syndrome Hyperuricuria Hypouricemia Inosine triphosphate pyrophosphohydrolase deficiency
[icd9data.com]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual
[se-atlas.de]
Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine
[se-atlas.de]
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY Is also known as hprt deficiency, grade i|hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial
[mendelian.co]
phosphoribosyltransferase deficiency Lesch-Nyhan syndrome Hypoxanthine-guanine phosphoribosyltransferase deficiency partial deficiency Paroxysmal nocturnal hemoglobinuria
[eurobloodnet.eu]
GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency
[mendelian.co]
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations.
[goldjournal.net]
hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
[hmdb.ca]
[PubMed:3148065 ] Gregoric A, Rabelink GM, Kokalj Vokac N, Varda NM, Zagradisnik B: Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase
[hmdb.ca]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual
[se-atlas.de]
Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine
[se-atlas.de]
Isolated xanthine oxidase deficiency Lesch Nyhan syndrome Lesch-Nyhan syndrome Muscle AMP deaminase deficiency Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
[icd9data.com]
[…] of pyrimidine metabolism Hereditary orotic aciduria, type 2 Hereditary xanthinuria Hooft's syndrome Hyperuricuria Hypouricemia Inosine triphosphate pyrophosphohydrolase deficiency
[icd9data.com]
Isolated xanthine oxidase deficiency Lesch Nyhan syndrome Lesch-Nyhan syndrome Muscle AMP deaminase deficiency Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
[icd9data.com]
hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
[hmdb.ca]
[…] of pyrimidine metabolism Hereditary orotic aciduria, type 2 Hereditary xanthinuria Hooft's syndrome Hyperuricuria Hypouricemia Inosine triphosphate pyrophosphohydrolase deficiency
[icd9data.com]
[…] guanine phosphoribosyltransferase partial deficiency Lesch-Nyhan syndrome MALT lymphoma MMEP syndrome Myelodysplastic syndrome associated with isolated del(5q) chromosome
[csbg.cnb.csic.es]
[…] blindness - ataxia - spasticity Familial atrial fibrillation Familial isolated congenital asplenia Familial renal amyloidosis due to lysozyme variant Familial thrombocytosis Hypoxanthine
[csbg.cnb.csic.es]
[…] oxidative phosphorylation defect type 2 Complement component 3 deficiency Congenital muscular dystrophy, Ullrich type Connective tissue disorder due to lysyl hydroxylase-3 deficiency
[csbg.cnb.csic.es]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual
[se-atlas.de]
Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine
[se-atlas.de]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual
[se-atlas.de]
Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine
[se-atlas.de]
deficiency of hypoxanthine-guanine phosphoribosyltransferase.
[amjmed.com]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual
[se-atlas.de]
[…] associated with overproduction of uric acid. in: Proc Nat Acad Sci. 57. 1967: 1735 Google Scholar Kogut MD Donnell GN Nyhan WL Sweetman L Disorder of purine metabolism due to partial
[amjmed.com]
Neonatal Adrenoleukodystrophy, Neuroblastoma, NICCD, Ornithine transcarbamylase deficiency, Orotic aciduria, Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase
[geno.ma]
(MUT), Mevalonic aciduria, Mitochondrial trifunctional protein deficiency, Multiple carboxylase deficiency, N-acetylglutamate / Carbamyl phosphate synthetase deficiency,
[geno.ma]
Methylmalonic acidemia (MMA) - Cbl C, D, Methylmalonic aciduria, cblA and cblB forms (MMA, Cbl A,B), Methylmalonic semialdehyde dehydrogenase deficiency, Methylmalonyl-CoA mutase deficiency
[geno.ma]
Isolated xanthine oxidase deficiency Lesch Nyhan syndrome Lesch-Nyhan syndrome Muscle AMP deaminase deficiency Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
[icd9data.com]
[…] of pyrimidine metabolism Hereditary orotic aciduria, type 2 Hereditary xanthinuria Hooft's syndrome Hyperuricuria Hypouricemia Inosine triphosphate pyrophosphohydrolase deficiency
[icd9data.com]
[…] guanine phosphoribosyltransferase 1 partial deficiency Hypoxanthine guanine phosphoribosyltransferase complete deficiency Hypoxanthine guanine phosphoribosyltransferase deficiency
[csbg.cnb.csic.es]
grade I Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV Hypoxanthine guanine phosphoribosyltransferase partial deficiency HYPP I-cell disease IAHSP IBM2
[csbg.cnb.csic.es]
[…] of the scalp Hypotrichosis with juvenile macular degeneration Hypotrichosis with juvenile macular dystrophy Hypotrichosis, Marie Unna type Hypotrichosis-deafness syndrome Hypoxanthine
[csbg.cnb.csic.es]
Hypereosinophilic syndrome Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IRIDA syndrome Idiopathic
[se-atlas.de]
Histiocytic sarcoma Hodgkin lymphoma Homocystinuria without methylmalonic aciduria Hoyeraal-Hreidarsson syndrome Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
[se-atlas.de]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual
[se-atlas.de]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Ichthyosis-alopecia-eclabion-ectropion-intellectual disability
[se-atlas.de]
Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine
[se-atlas.de]
Hypereosinophilic syndrome Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IRIDA syndrome Idiopathic
[se-atlas.de]
Histiocytic sarcoma Hodgkin lymphoma Homocystinuria without methylmalonic aciduria Hoyeraal-Hreidarsson syndrome Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
[se-atlas.de]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Infantile Krabbe disease Infantile Refsum disease Infantile
[se-atlas.de]
[…] tubular disease due to mitochondrial DNA mutation Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Hypotonia with lactic acidemia and hyperammonemia Hypoxanthine
[se-atlas.de]
[…] short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
[se-atlas.de]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual
[se-atlas.de]
Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine
[se-atlas.de]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual
[se-atlas.de]
Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine
[se-atlas.de]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual
[se-atlas.de]
Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine
[se-atlas.de]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual
[se-atlas.de]
Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine
[se-atlas.de]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Infantile Krabbe disease Infantile Refsum disease Infantile
[se-atlas.de]
[…] tubular disease due to mitochondrial DNA mutation Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Hypotonia with lactic acidemia and hyperammonemia Hypoxanthine
[se-atlas.de]
[…] short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
[se-atlas.de]
[…] guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency IMAGe syndrome IVIC syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual
[se-atlas.de]
Hypospadias-intellectual disability, Goldblatt type syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine
[se-atlas.de]