Works matching Galactokinase deficiency

Results: 25

Molecular characterization of galactokinase deficiency in Japanese patients.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 6, p. 377, doi. 10.1007/s100380050182

By:

Asada, M.;
Okano, Y.;
Imamura, T.;
Suyama, I.;
Hase, Y.;
Isshiki, G.

Publication type:

Article

Galactokinase Deficiency Induced Cataracts in Indian Infants: Identification of 4 Novel Mutations in GALK Gene.

Published in:

Current Eye Research, 2012, v. 37, n. 10, p. 949, doi. 10.3109/02713683.2012.688162

By:

Singh, Ramandeep;
Ram, Jagat;
Kaur, Gurjit;
Prasad, Rajendra

Publication type:

Article

Galactose Metabolism in a Patient with Hereditary Galactokinase Deficiency.

Published in:

European Journal of Clinical Investigation, 1974, v. 4, n. 2, p. 79, doi. 10.1111/j.1365-2362.1974.tb02318.x

By:

Gitzelmann, Richard;
Wells, Henry J.;
Segal, Stanton

Publication type:

Article

Galactose Metabolism in a Patient with Hereditary Galactokinase Deficiency.

Published in:

European Journal of Clinical Investigation, 1974, v. 4, n. 1, p. 79, doi. 10.1111/j.1365-2362.1974.tb00376.x

By:

Gitzelmann, Richard;
Wells, Henry J.;
Segal, Stanton

Publication type:

Article

Cataract and early nystagmus due to galactokinase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 749, doi. 10.1007/s10545-017-0040-8

By:

Bzduch, Vladimir;
Tomcikova, Dana;
Gerinec, Anton;
Behulova, Darina

Publication type:

Article

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 399, doi. 10.1007/s10545-010-9270-8

By:

Hennermann, Julia;
Schadewaldt, Peter;
Vetter, Barbara;
Shin, Yoon;
Mönch, Eberhard;
Klein, Jeannette

Publication type:

Article

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 396, doi. 10.1002/humu.9223

By:

Sangiuolo, Federica;
Magnani, Mauro;
Stambolian, Dwight;
Novelli, Giuseppe

Publication type:

Article

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 77, doi. 10.1002/1098-1004(2001)17:1<77::AID-HUMU20>3.0.CO;2-H

By:

Hunter, Michael;
Angelicheva, Dora;
Levy, Harvey L.;
Pueschel, Sigfried M.;
Kalaydjieva, Luba

Publication type:

Article

Novel mutations in 13 probands with galactokinase deficiency.

Published in:

Human Mutation, 2000, v. 15, n. 5, p. 447, doi. 10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M

By:

Kolosha, V.;
Anoia, E.;
de Cespedes, C.;
Gitzelmann, R.;
Shih, L.;
Casco, T.;
Saborio, M.;
Trejos, R.;
Buist, N.;
Tedesco, T.;
Skach, W.;
Mitelmann, O.;
Ledee, D.;
Huang, K.;
Stambolian, D.

Publication type:

Article

[<sup>13</sup>C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 104, doi. 10.1002/jmd2.12205

By:

Ficicioglu, Can;
Demirbas, Didem;
Derks, Britt;
Pai, G. Shashidhar;
Timson, David J.;
Rubio‐Gozalbo, Maria Estela;
Berry, Gerard T.

Publication type:

Article

Detection of inborn errors of metabolism. IV. Galactokinase deficiency.

Published in:

Clinical Genetics, 1975, v. 8, n. 3, p. 179, doi. 10.1111/j.1399-0004.1975.tb01491.x

By:

Hill, Helene Z.

Publication type:

Article

A PATIENT WITH HEREDITARY GALACTOKINASE DEFICIENCY.

Published in:

Acta Paediatrica, 1970, v. 59, n. 6, p. 669, doi. 10.1111/j.1651-2227.1970.tb17703.x

By:

DAHLQVIST, A.;
GAMSTORP, I.;
MADSEN, H.

Publication type:

Article

Iskustva s galaktozemijom u Hrvatskoj.

Published in:

Lijecnicki Vjesnik, 2023, v. 145, n. 1/2, p. 1, doi. 10.26800/LV-145-1-2-1

By:

Šmaguc, Ana;
Ramadža, Danijela Petković;
Sarnavka, Vladimir;
Krželj, Vjekoslav;
Lozić, Bernarda;
Pušeljić, Silvija;
Rahelić, Valentina;
Mesarić, Nikola;
Grubić, Marina;
Bogdanić, Ana;
Uroić, Anita Špehar;
Žigman, Tamara;
Grizelj, Ruža;
Vuković, Jurica;
Mardešić, Duško;
Szatmari, Ildiko;
Rivera, Isabel;
Fumić, Ksenija;
Barić, Ivo

Publication type:

Article

Galactosemia: revisión de la bibliografía.

Published in:

Acta Pediatrica de Mexico, 2021, v. 42, n. 1, p. 27, doi. 10.18233/apm42no1pp27-431968

By:

Godoy-Salgado, Celenia;
Sabillón-Mendoza, Alejandra;
Zárate-Mondragón, Flora;
Toro-Monjaraz, Erick;
Cadena-León, José;
Ignorosa-Arellano, Karen;
Loredo-Mayer, Alejandro;
Cervantes-Bustamante, Roberto;
Ramírez-Mayans, Jaime

Publication type:

Article

Human Erythrocyte Galactokinase: A Population Survey.

Published in:

Human Heredity, 1982, v. 32, n. 4, p. 274, doi. 10.1159/000153306

By:

Magnani, Mauro;
Cucchiarini, Luigi;
Stocchi, Vilberto;
Stocchi, Ovidio;
Carnevali, Gianjranco;
Dachà, Marina;
Fornaini, Giorgio

Publication type:

Article

Screening for galactosemia: is there a place for it?

Published in:

International Journal of General Medicine, 2019, v. 12, p. 193, doi. 10.2147/IJGM.S180706

By:

Kotb, Magd A;
Mansour, Lobna;
Shamma, Radwa A

Publication type:

Article

Transient galactosemia detected by neonatal mass screening.

Published in:

Pediatrics International, 1999, v. 41, n. 3, p. 281, doi. 10.1046/j.1442-200X.1999.01070.x

By:

Ono;
Mawatari;
Mizoguchi;
Eguchi;
Hamakawa, Nobuo Sakura;
Md, Hiroaki Ono

Publication type:

Article

Quantitative ensymatische Bestimmuing der Galaktokinaseaktivität im Erythrocytenhämolysat.

Published in:

Clinical Chemistry & Laboratory Medicine, 1972, v. 10, n. 9, p. 430

By:

GESCHE, M.;
MENNE, R.

Publication type:

Article

Pathobiochemie und Diagnostik der angeborenen Störungen des Galactose-Stoffwechsels.

Published in:

Journal of Laboratory Medicine / Laboratoriums Medizin, 1993, v. 17, n. 12, p. 547

By:

Witt, Irene

Publication type:

Article

Kırmızı yansıma testi ile katarakt saptanan bir süt çocuğu olgusu.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2014, v. 57, n. 2, p. 97

By:

Çekiç, Şükrü;
Cihan Balcı, M.;
Devecioğlu, Esra;
Gökçay, Gülbin;
Gökçay, Gülden

Publication type:

Article

AN UNEXPECTEDLY HIGH FREQUENCY OF HYPERGALACTOSEMIA IN AN IMMIGRANT BOSNIAN POPULATION REVEALED BY NEWBORN SCREENING.

Published in:

Pedijatrija Danas: Pediatrics Today, 2006, v. 2, n. 1, p. 112

By:

Reich, Susanne;
Hennermann, Julia;
Vetter, Barbara;
Neumann, Luitgard M.;
Shin, Yoon S.;
Söling, Ariane;
Mönch, Eberhard;
Kulozik, Andreas E.

Publication type:

Article

A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.

Published in:

BMC Medical Genetics, 2009, v. 10, p. 1, doi. 10.1186/1471-2350-10-29

By:

Hyung-Doo Park;
Yoon-Kyoung Kim;
Kyoung Un Park;
Kim, Jin Q.;
Young-Han Song;
Junghan Song

Publication type:

Article

Galactokinase Is a Novel Modifier of Calcineurin-Induced Cardiomyopathy in Drosophila.

Published in:

Genetics, 2014, v. 198, n. 2, p. 591, doi. 10.1534/genetics.114.166777

By:

Lee, Teresa E.;
Lin Yu;
Wolf, Matthew J.;
Rockman, Howard A.

Publication type:

Article

Cloning of canine galactokinase (GALK1) and evaluation as a candidate gene for hereditary cataracts in Labrador retrievers.

Published in:

Animal Genetics, 2005, v. 36, n. 3, p. 265, doi. 10.1111/j.1365-2052.2005.01275.x

By:

Sidjanin, D. J.;
McElwee, J.;
Miller, B.;
Aguirre, G. D.

Publication type:

Article

Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 7, p. 775, doi. 10.1515/jpem-2017-0065

By:

Schulpis, Kleopatra H.;
Thodi, Georgia;
Iakovou, Konstantinos;
Chatzidaki, Maria;
Dotsikas, Yannis;
Molou, Elina;
Triantafylli, Olga;
Loukas, Yannis L.

Publication type:

Article