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Literature DB >> 3150232

Outcome of the patients detected by newborn screening in Japan.

K Aoki, Y Wada.

Abstract

Entities: Species

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Year: 1988 PMID： 3150232 DOI： 10.1111/j.1442-200x.1988.tb02533.x

Source DB: PubMed Journal: Acta Paediatr Jpn ISSN： 0374-5600

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18 in total

1. Mutation characteristics of the PAH gene in four nationality groups in Xinjiang of China.

Authors: Wu-Zhong Yu; Dong-Hui Qiu; Fang Song; Li Liu; Shao-Ming Liu; Yu-Wei Jin; Yan-Ling Zhang; Hong-Yun Zou; Jiang He; Quan Lei; Xing-Wen Liu
Journal: J Genet Date: 2008-12 Impact factor: 1.166

2. RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene.

Authors: F K Trefz; M Yoshino; A Nishiyori; F Aengeneyndt; B Schmidt-Mader; U Lichter-Konecki; D S Konecki
Journal: Hum Genet Date: 1990-06 Impact factor: 4.132

3. Clinical utility gene card for: Phenylketonuria.

Authors: Johannes Zschocke; Thomas Haverkamp; Lisbeth Birk Møller
Journal: Eur J Hum Genet Date: 2011-09-14 Impact factor: 4.246

4. A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.

Authors: Y Okano; M Asada; A Fujimoto; A Ohtake; K Murayama; K J Hsiao; K Choeh; Y Yang; Q Cao; J K Reichardt; S Niihira; T Imamura; T Yamano
Journal: Am J Hum Genet Date: 2001-02-23 Impact factor: 11.025

Review 5. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

Authors: D S Konecki; U Lichter-Konecki
Journal: Hum Genet Date: 1991-08 Impact factor: 4.132

6. A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.

Authors: Rena Papachristoforou; Petros P Petrou; Hilary Sawyer; Maggie Williams; Anthi Drousiotou
Journal: JIMD Rep Date: 2013-09-04

Outcome of the patients detected by newborn screening in Japan.

1. Mutation characteristics of the PAH gene in four nationality groups in Xinjiang of China.

2. RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene.

3. Clinical utility gene card for: Phenylketonuria.

4. A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.

Review 5. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

6. A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.

7. The molecular basis of phenylketonuria in Koreans.

8. Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene.

9. Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus.

10. Multiple origins for phenylketonuria in Europe.