Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
Maier, Esther M., Mütze, Ulrike, Janzen, Nils, Steuerwald, Ulrike, Nennstiel, Uta, Odenwald, Birgit, Schuhmann, Elfriede, Lotz‐Havla, Amelie S., Weiss, Katharina J., Hammersen, Johanna, Weigel, Corina, Thimm, Eva, Grünert, Sarah C., Hennermann, Julia B., Freisinger, Peter, Krämer, Johannes, Das, Anibh M., Illsinger, Sabine, Gramer, Gwendolyn, Fang‐Hoffmann, Junmin, Garbade, Sven F., Okun, Jürgen G., Hoffmann, Georg F., Kölker, Stefan, Röschinger, Wulf
Published in Journal of inherited metabolic disease (01.11.2023)
Published in Journal of inherited metabolic disease (01.11.2023)
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Journal Article
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany
Lindner, Martin, Gramer, Gwendolyn, Haege, Gisela, Fang-Hoffmann, Junmin, Schwab, Karl O, Tacke, Uta, Trefz, Friedrich K, Mengel, Eugen, Wendel, Udo, Leichsenring, Michael, Burgard, Peter, Hoffmann, Georg F
Published in Orphanet journal of rare diseases (20.06.2011)
Published in Orphanet journal of rare diseases (20.06.2011)
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Journal Article
Newborn Population Screening for Classic Homocystinuria by Determination of Total Homocysteine from Guthrie Cards
Gan-Schreier, Hongying, PhD, Kebbewar, Moustafa, Fang-Hoffmann, Junmin, MD, Wilrich, Julia, MD, Abdoh, Ghassan, MD, Ben-Omran, Tawfeg, MD, Shahbek, Noora, MD, Bener, Abdulbari, MD, Al Rifai, Hilal, MD, Al Khal, Abdul Latif, MD, Lindner, Martin, MD, Zschocke, Johannes, MD, PhD, Hoffmann, Georg F., MD
Published in The Journal of pediatrics (01.03.2010)
Published in The Journal of pediatrics (01.03.2010)
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Journal Article
Molecular neonatal screening for homocystinuria in the Qatari population
Zschocke, Johannes, Kebbewar, Moustafa, Gan-Schreier, Hongying, Fischer, Christine, Fang-Hoffmann, Junmin, Wilrich, Julia, Abdoh, Ghassan, Ben-Omran, Tawfeg, Shahbek, Noora, Lindner, Martin, Al Rifai, Hilal, Al Khal, Abdul Latif, Hoffmann, Georg F
Published in Human mutation (01.06.2009)
Published in Human mutation (01.06.2009)
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Journal Article
Newborn Screening for Vitamin B12 Deficiency in Germany—Strategies, Results, and Public Health Implications
Gramer, Gwendolyn, Fang-Hoffmann, Junmin, Feyh, Patrik, Klinke, Glynis, Monostori, Peter, Mütze, Ulrike, Posset, Roland, Weiss, Karl Heinz, Hoffmann, Georg F., Okun, Jürgen G.
Published in The Journal of pediatrics (01.01.2020)
Published in The Journal of pediatrics (01.01.2020)
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Journal Article
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
Schnabel, Elena, Kölker, Stefan, Gleich, Florian, Feyh, Patrik, Hörster, Friederike, Haas, Dorothea, Fang-Hoffmann, Junmin, Morath, Marina, Gramer, Gwendolyn, Röschinger, Wulf, Garbade, Sven F, Hoffmann, Georg F, Okun, Jürgen G, Mütze, Ulrike
Published in Nutrients (28.07.2023)
Published in Nutrients (28.07.2023)
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Journal Article
High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel
Gramer, Gwendolyn, Fang-Hoffmann, Junmin, Feyh, Patrik, Klinke, Glynis, Monostori, Peter, Okun, Jürgen G., Hoffmann, Georg F.
Published in World journal of pediatrics : WJP (01.10.2018)
Published in World journal of pediatrics : WJP (01.10.2018)
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Journal Article
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
Gramer, Gwendolyn, Wortmann, Saskia B, Fang-Hoffmann, Junmin, Kohlmüller, Dirk, Okun, Jürgen G, Prokisch, Holger, Meitinger, Thomas, Hoffmann, Georg F
Published in International journal of neonatal screening (27.02.2024)
Published in International journal of neonatal screening (27.02.2024)
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Journal Article
Genetic cause and prevalence of hydroxyprolinemia
Staufner, Christian, Haack, Tobias B., Feyh, Patrik, Gramer, Gwendolyn, Raga, Deepthi Ediga, Terrile, Caterina, Sauer, Sven, Okun, Jürgen G., Fang-Hoffmann, Junmin, Mayatepek, Ertan, Prokisch, Holger, Hoffmann, Georg F., Kölker, Stefan
Published in Journal of inherited metabolic disease (01.09.2016)
Published in Journal of inherited metabolic disease (01.09.2016)
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Journal Article
Newborn Screening for Vitamin B 12 Deficiency in Germany-Strategies, Results, and Public Health Implications
Gramer, Gwendolyn, Fang-Hoffmann, Junmin, Feyh, Patrik, Klinke, Glynis, Monostori, Peter, Mütze, Ulrike, Posset, Roland, Weiss, Karl Heinz, Hoffmann, Georg F, Okun, Jürgen G
Published in The Journal of pediatrics (01.01.2020)
Published in The Journal of pediatrics (01.01.2020)
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Journal Article
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening
Mütze, Ulrike, Garbade, Sven F, Gramer, Gwendolyn, Lindner, Martin, Freisinger, Peter, Grünert, Sarah Catharina, Hennermann, Julia, Ensenauer, Regina, Thimm, Eva, Zirnbauer, Judith, Leichsenring, Michael, Gleich, Florian, Hörster, Friederike, Grohmann-Held, Karina, Boy, Nikolas, Fang-Hoffmann, Junmin, Burgard, Peter, Walter, Magdalena, Hoffmann, Georg F, Kölker, Stefan
Published in Pediatrics (Evanston) (01.11.2020)
Published in Pediatrics (Evanston) (01.11.2020)
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Journal Article
Health Outcomes of Infants with Vitamin B 12 Deficiency Identified by Newborn Screening and Early Treated
Mütze, Ulrike, Walter, Magdalena, Keller, Mareike, Gramer, Gwendolyn, Garbade, Sven F, Gleich, Florian, Haas, Dorothea, Posset, Roland, Grünert, Sarah C, Hennermann, Julia B, Thimm, Eva, Fang-Hoffmann, Junmin, Syrbe, Steffen, Okun, Jürgen G, Hoffmann, Georg F, Kölker, Stefan
Published in The Journal of pediatrics (01.08.2021)
Published in The Journal of pediatrics (01.08.2021)
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Journal Article
Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated
Mütze, Ulrike, Walter, Magdalena, Keller, Mareike, Gramer, Gwendolyn, Garbade, Sven F., Gleich, Florian, Haas, Dorothea, Posset, Roland, Grünert, Sarah C., Hennermann, Julia B., Thimm, Eva, Fang-Hoffmann, Junmin, Syrbe, Steffen, Okun, Jürgen G., Hoffmann, Georg F., Kölker, Stefan
Published in The Journal of pediatrics (01.08.2021)
Published in The Journal of pediatrics (01.08.2021)
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Journal Article
Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis—implications for process quality and patient care
Gramer, Gwendolyn, Brockow, Inken, Labitzke, Christiane, Fang-Hoffmann, Junmin, Beivers, Andreas, Feyh, Patrik, Hoffmann, Georg F., Nennstiel, Uta, Sommerburg, Olaf
Published in European journal of pediatrics (01.04.2021)
Published in European journal of pediatrics (01.04.2021)
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Journal Article
High incidence of maternal vitamin B 12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel
Gramer, Gwendolyn, Fang-Hoffmann, Junmin, Feyh, Patrik, Klinke, Glynis, Monostori, Peter, Okun, Jürgen G, Hoffmann, Georg F
Published in World journal of pediatrics : WJP (01.10.2018)
Published in World journal of pediatrics : WJP (01.10.2018)
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Journal Article
Newborn screening for remethylation disorders and vitamin B 12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany
Gramer, Gwendolyn, Abdoh, Ghassan, Ben-Omran, Tawfeg, Shahbeck, Noora, Ali, Rehab, Mahmoud, Laila, Fang-Hoffmann, Junmin, Hoffmann, Georg F, Al Rifai, Hilal, Okun, Jürgen G
Published in World journal of pediatrics : WJP (01.04.2017)
Published in World journal of pediatrics : WJP (01.04.2017)
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Journal Article
Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany
Gramer, Gwendolyn, Abdoh, Ghassan, Ben-Omran, Tawfeg, Shahbeck, Noora, Ali, Rehab, Mahmoud, Laila, Fang-Hoffmann, Junmin, Hoffmann, Georg F., Al Rifai, Hilal, Okun, Jürgen G.
Published in World journal of pediatrics : WJP (01.04.2017)
Published in World journal of pediatrics : WJP (01.04.2017)
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Journal Article
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
Gramer, Gwendolyn, Haege, Gisela, Fang-Hoffmann, Junmin, Hoffmann, Georg F., Bartram, Claus R., Hinderhofer, Katrin, Burgard, Peter, Lindner, Martin
Published in JIMD Reports, Volume 23 (01.01.2015)
Published in JIMD Reports, Volume 23 (01.01.2015)
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Book Chapter
Journal Article
The extended nationwide newborn screening program in the state of Qatar (in cooperation with the Neonatal Screening Centre in University Children Hospital Heidelberg-Germany) — 10year outcome
Abdoh, Ghassan M., Ben-Omran, Tawfeg, Shabeck, Noora, Ali, Rehab, Fang-Hoffmann, Junmin, Lindner, Martin, AlRifai, Hilal A., Hoffmann, Georg F.
Published in Clinical biochemistry (01.10.2014)
Published in Clinical biochemistry (01.10.2014)
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Journal Article
The extended nationwide newborn screening program in the state of Qatar (in cooperation with the Neonatal Screening Centre in University Children Hospital Heidelberg-Germany) — 10 year outcome
Abdoh, Ghassan M., Ben-Omran, Tawfeg, Shabeck, Noora, Ali, Rehab, Fang-Hoffmann, Junmin, Lindner, Martin, AlRifai, Hilal A., Hoffmann, Georg F.
Published in Clinical biochemistry (01.10.2014)
Published in Clinical biochemistry (01.10.2014)
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Journal Article