Molecular Analysis of Hereditary Hyperferritinemia-Cataract Syndrome in a Large Basque Family

G. Pérez de Nanclares,; L. Castaño,; P. Martul,; I. Rica,; A. Vela,; P. Sanjurjo,; K. Aldamiz-Echevarría,; R. Martínez,; M.J. Sarrionandia,

doi:10.1515/JPEM.2001.14.3.295

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Molecular Analysis of Hereditary Hyperferritinemia-Cataract Syndrome in a Large Basque Family

G. Pérez de Nanclares, , L. Castaño, , P. Martul, , I. Rica, , A. Vela, , P. Sanjurjo, , K. Aldamiz-Echevarría, , R. Martínez, und M.J. Sarrionandia,

Veröffentlicht/Copyright: 1. März 2001

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Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 14 Heft 3

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Vancouver

Pérez de Nanclares,, G., Castaño,, L., Martul,, P., Rica,, I., Vela,, A., Sanjurjo,, P., Aldamiz-Echevarría,, K., Martínez,, R. and Sarrionandia,, M.J.. "Molecular Analysis of Hereditary Hyperferritinemia-Cataract Syndrome in a Large Basque Family" Journal of Pediatric Endocrinology and Metabolism, vol. 14, no. 3, 2001, pp. 295-300. https://doi.org/10.1515/JPEM.2001.14.3.295

Pérez de Nanclares,, G., Castaño,, L., Martul,, P., Rica,, I., Vela,, A., Sanjurjo,, P., Aldamiz-Echevarría,, K., Martínez,, R. & Sarrionandia,, M. (2001). Molecular Analysis of Hereditary Hyperferritinemia-Cataract Syndrome in a Large Basque Family. Journal of Pediatric Endocrinology and Metabolism, 14(3), 295-300. https://doi.org/10.1515/JPEM.2001.14.3.295

Pérez de Nanclares,, G., Castaño,, L., Martul,, P., Rica,, I., Vela,, A., Sanjurjo,, P., Aldamiz-Echevarría,, K., Martínez,, R. and Sarrionandia,, M. (2001) Molecular Analysis of Hereditary Hyperferritinemia-Cataract Syndrome in a Large Basque Family. Journal of Pediatric Endocrinology and Metabolism, Vol. 14 (Issue 3), pp. 295-300. https://doi.org/10.1515/JPEM.2001.14.3.295

Pérez de Nanclares,, G., Castaño,, L., Martul,, P., Rica,, I., Vela,, A., Sanjurjo,, P., Aldamiz-Echevarría,, K., Martínez,, R. and Sarrionandia,, M.J.. "Molecular Analysis of Hereditary Hyperferritinemia-Cataract Syndrome in a Large Basque Family" Journal of Pediatric Endocrinology and Metabolism 14, no. 3 (2001): 295-300. https://doi.org/10.1515/JPEM.2001.14.3.295

Pérez de Nanclares, G, Castaño, L, Martul, P, Rica, I, Vela, A, Sanjurjo, P, Aldamiz-Echevarría, K, Martínez, R, Sarrionandia, M. Molecular Analysis of Hereditary Hyperferritinemia-Cataract Syndrome in a Large Basque Family. Journal of Pediatric Endocrinology and Metabolism. 2001;14(3): 295-300. https://doi.org/10.1515/JPEM.2001.14.3.295

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Published Online: 2001-03

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TABLE OF CONTENTS
Graves' Disease in Childhood
New Thoughts on Female Precocious Puberty
The Relationship Between Ovarian Structure and Hyperandrogenism in Premature Pubarche
Improvement of HbA1c Without Increased Hypoglycemia in Adolescents and Young Adults with Type 1 Diabetes Mellitus Treated with Recombinant Human Insulin-like Growth Factor-I and Insulin
Autoimmune Thyroid Disease in Indian Children with Type 1 Diabetes Mellitus
Serum Soluble Endothelial-Cell Specific Adhesion Molecules in Children with Insulin-dependent Diabetes Mellitus
Molecular Analysis of Hereditary Hyperferritinemia-Cataract Syndrome in a Large Basque Family
Evaluation of Gonadotrophin Insufficiency in Thalassemic Boys with Pubertal Failure: Spontaneous Versus Provocative Test
Growth Hormone Treatment in Short Children with Intrauterine Growth Retardation
Disorders of Growth and Puberty in Children with Non-Tumoral Hydrocephalus
Rickets as an Unusual Initial Presentation of Abetalipoproteinemia and Hypobetalipoproteinemia
Fatal Liver Failure due to Ketoconazole Treatment of a Girl with Cushing's Syndrome
BOOK REVIEWS. CALENDAR

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https://doi.org/10.1515/JPEM.2001.14.3.295

Artikel in diesem Heft

TABLE OF CONTENTS
Graves' Disease in Childhood
New Thoughts on Female Precocious Puberty
The Relationship Between Ovarian Structure and Hyperandrogenism in Premature Pubarche
Improvement of HbA1c Without Increased Hypoglycemia in Adolescents and Young Adults with Type 1 Diabetes Mellitus Treated with Recombinant Human Insulin-like Growth Factor-I and Insulin
Autoimmune Thyroid Disease in Indian Children with Type 1 Diabetes Mellitus
Serum Soluble Endothelial-Cell Specific Adhesion Molecules in Children with Insulin-dependent Diabetes Mellitus
Molecular Analysis of Hereditary Hyperferritinemia-Cataract Syndrome in a Large Basque Family
Evaluation of Gonadotrophin Insufficiency in Thalassemic Boys with Pubertal Failure: Spontaneous Versus Provocative Test
Growth Hormone Treatment in Short Children with Intrauterine Growth Retardation
Disorders of Growth and Puberty in Children with Non-Tumoral Hydrocephalus
Rickets as an Unusual Initial Presentation of Abetalipoproteinemia and Hypobetalipoproteinemia
Fatal Liver Failure due to Ketoconazole Treatment of a Girl with Cushing's Syndrome
BOOK REVIEWS. CALENDAR