Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Molecular characterization of Polish patients with classical galactosaemia.

Literature DB >> 10399107

Molecular characterization of Polish patients with classical galactosaemia.

C Zekanowski¹, B Radomyska, J Bal.

Abstract

Entities: Disease Mutation Species

Mesh：

Substances：

Year: 1999 PMID： 10399107 DOI： 10.1023/a:1005511020607

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

× No keyword cloud information.

4 in total

1. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

Authors: S Greber-Platzer; P Guldberg; S Scheibenreiter; C Item; E Schuller; N Patel; W Strobl
Journal: Hum Mutat Date: 1997 Impact factor: 4.878

2. Komrower Lecture. Galactosaemia today: the enigma and the challenge.

Authors: S Segal
Journal: J Inherit Metab Dis Date: 1998-08 Impact factor: 4.982

3. Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

Authors: T Podskarbi; T Kohlmetz; B S Gathof; B Kleinlein; W P Bieger; U Gresser; Y S Shin
Journal: J Inherit Metab Dis Date: 1996 Impact factor: 4.982

4. Molecular and biochemical basis of galactosemia.

Authors: B B Wang; Y K Xu; W G Ng; L J Wong
Journal: Mol Genet Metab Date: 1998-04 Impact factor: 4.797

4 in total

7 in total

Review 1. Appropriateness of newborn screening for classic galactosaemia: a systematic review.

Authors: L Varela-Lema; L Paz-Valinas; G Atienza-Merino; R Zubizarreta-Alberdi; R Vizoso Villares; M López-García
Journal: J Inherit Metab Dis Date: 2016-04-26 Impact factor: 4.982

2. Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.

Authors: Ilona Milánkovics; Agnes Schuler; Eniko Kámory; Béla Csókay; Flóra Fodor; Csilla Somogyi; Krisztina Németh; György Fekete
Journal: Wien Klin Wochenschr Date: 2010-02 Impact factor: 1.704

3. 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

Molecular characterization of Polish patients with classical galactosaemia.

1. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

2. Komrower Lecture. Galactosaemia today: the enigma and the challenge.

3. Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

4. Molecular and biochemical basis of galactosemia.

Review 1. Appropriateness of newborn screening for classic galactosaemia: a systematic review.

2. Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.

3. 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.

4. Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

5. The genetic basis of classical galactosaemia in Polish patients.

6. Functional and structural impact of the most prevalent missense mutations in classic galactosemia.

Review 7. Sweet and sour: an update on classic galactosemia.