Search Results - "Dajnoki, Angela"

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry by Dajnoki, Angéla, Fekete, György, Keutzer, Joan, Orsini, Joseph J., De Jesus, Victor R., Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lukacs, Zoltan, Mühl, Adolf, Zhang, X. Kate, Bodamer, Olaf

“…Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A (GLA). We evaluated a tandem mass spectrometry…”
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Analysis of lyso-globotriaosylsphingosine in dried blood spots by Johnson, Britt, Mascher, Hermann, Mascher, Daniel, Legnini, Elisa, Hung, Christina Y, Dajnoki, Angela, Chien, Yin-Hsiu, Maródi, László, Hwu, Wuh-Liang, Bodamer, Olaf A

“…Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry…”
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Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry by Legnini, Elisa, Orsini, Joe J, Mühl, Adolf, Johnson, Britt, Dajnoki, Angela, Bodamer, Olaf A

“…Niemann Pick disease (NP) is a rare, lysosomal storage disorder due to deficiency of the intra-lysosomal enzyme acid sphingomyelinase (ASM) resulting in…”
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Newborn Screening for Pompe Disease by Measuring Acid {alpha}-Glucosidase Activity Using Tandem Mass Spectrometry by Dajnoki, Angela, Muhl, Adolf, Fekete, Gyorgy, Keutzer, Joan, Orsini, Joe, DeJesus, Victor, Zhang, X. Kate, Bodamer, Olaf A

“…Pompe disease, caused by the deficiency of acid α-glucosidase (GAA), is a lysosomal storage disorder that manifests itself in its most severe form within the…”
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Endocannabinoids Modulate Human Epidermal Keratinocyte Proliferation and Survival via the Sequential Engagement of Cannabinoid Receptor-1 and Transient Receptor Potential Vanilloid-1 by Tóth, Balázs I., Dobrosi, Nóra, Dajnoki, Angéla, Czifra, Gabriella, Oláh, Attila, Szöllősi, Attila G., Juhász, István, Sugawara, Koji, Paus, Ralf, Bíró, Tamás

“…We have recently shown that lipid mediators of the emerging endocannabinoid system (ECS) are key players of growth control of the human pilosebaceous unit. In…”
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Novel sequence variants of the α-galactosidase A gene in patients with Fabry disease by Erdős, Melinda, Németh, Krisztina, Tóth, Beáta, Constantin, Tamás, Rákóczi, Éva, Ponyi, Andrea, Dajnoki, Angéla, Grubits, János, Pintér, István, Garzuly, Ferencz, Hahn, Katalin, Bencsik, Krisztina, Vécsei, László, Fekete, György, Maródi, László

“…We carried out molecular studies of 15 unrelated Hungarian families diagnosed with Fabry disease (FD). Genetic analysis of the α-galactosidase A gene was…”
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Newborn Screening for Pompe Disease by Measuring Acid α-Glucosidase Activity Using Tandem Mass Spectrometry by DAJNOKI, Angéla, MÜHL, Adolf, FEKETE, György, KEUTZER, Joan, ORSINI, Joe, DEJESUS, Victor, ZHANG, X. Kate, BODAMER, Olaf A

“…Pompe disease, caused by the deficiency of acid alpha-glucosidase (GAA), is a lysosomal storage disorder that manifests itself in its most severe form within…”
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Newborn screening of lysosomal storage disorders in Austria by Bodamer, Olaf A., MD, PhD, FACMG, Dajnoki, Angela, PhD, Fekete, György, MD, Keutzer, Joan, PhD, Orsini, Joseph, PhD, DeJesus, Victor R., PhD, Zhang, Kate, PhD, Mühl, Adolf, PhD

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Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes by Hackett, Amber R., Yahn, Stephanie L., Lyapichev, Kirill, Dajnoki, Angela, Lee, Do-Hun, Rodriguez, Mario, Cammer, Natasha, Pak, Ji, Mehta, Saloni T., Bodamer, Olaf, Lemmon, Vance P., Lee, Jae K.

“…The glial scar is comprised of a heterogeneous population of reactive astrocytes. NG2 glial cells (also known as oligodendrocyte progenitor cells or…”
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Diagnosis of lysosomal storage disorders: Gaucher disease by Johnson, Britt A, Dajnoki, Angela, Bodamer, Olaf

“…Gaucher Disease (GD) is a progressive lysosomal storage disorder caused by deficiency of glucocerebrosidase (GBA). The clinical phenotype follows a spectrum…”
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Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I by Johnson, Britt A, Dajnoki, Angela, Bodamer, Olaf A

“…Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to deficiency of alpha iduronidase (IDUA). Progressive storage of dermatan and heparan…”
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Diagnosing lysosomal storage disorders: Fabry disease by Bodamer, Olaf A, Johnson, Britt, Dajnoki, Angela

“…Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficiency of alpha galactosidase A (GLA). Progressive, intralysosomal accumulation of…”
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Diagnosing lysosomal storage disorders: Pompe disease by Bodamer, Olaf A, Dajnoki, Angela

“…Pompe disease is a lysosomal storage disorder caused by a deficiency of acid alpha glucosidase (GAA). Diagnosis of Pompe disease is typically based on an…”
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Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II by Johnson, Britt A, van Diggelen, Otto P, Dajnoki, Angela, Bodamer, Olaf A

“…Mucopolysaccharidosis type II (MPS II) is an X-linked lysosomal storage disorder caused by a deficiency of iduronate 2-sulfatase (IDS). Progressive,…”
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Management of Fabry disease by Constantin, Tamás, Székely, Annamária, Ponyi, Andrea, Gulácsy, Vera, Ambrus, Csaba, Kádár, Krisztina, Vastagh, Ildikó, Dajnoki, Angéla, Tóth, Beáta, Bokrétás, Gergely, Müller, Veronika, Katona, Mária, Medvecz, Márta, Fiedler, Orsolya, Széchey, Rita, Varga, Edit, Rudas, Gábor, Kertész, Attila, Molnár, Sándor, Kárpáti, Sarolta, Nagy, Viktor, Magyar, Pál, Mahdi, Mohamed, Rákóczi, Eva, Németh, Krisztina, Bereczki, Dániel, Garami, Miklós, Erdos, Melinda, Maródi, László, Fekete, György

“…Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease…”
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Fabry disease--diagnostic guideline by Constantin, Tamás, Rákóczi, Eva, Ponyi, Andrea, Ambrus, Csaba, Kádár, Krisztina, Vastagh, Ildikó, Dajnoki, Angéla, Tóth, Beáta, Bokrétás, Gergely, Müller, Veronika, Katona, Mária, Csikós, Márta, Fiedler, Orsolya, Széchey, Rita, Varga, Edit, Rudas, Gábor, Kertész, Attila, Molnár, Sándor, Kárpáti, Sarolta, Nagy, Viktor, Magyar, Pál, Mahdi, Mohamed, Németh, Krisztina, Bereczki, Dániel, Garami, Miklós, Erdos, Melinda, Maródi, László, Fekete, György

“…Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease…”
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