Arylsulfatase A pseudodeficiency in healthy Brazilian individuals by C.G. Pedron, P.A. Gaspar, R. Giugliani, M.L.S. Pereira

Subjects: Get full text

Metachromatic Leukodystrophy Variants by J Gordon Millichap

Subjects: Get full text

Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience by Lorne A. Clarke, Patricia Dickson, N. Matthew Ellinwood, Terri L. Klein

Subjects: Get full text

Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update by Barbara K. Burton, Rachel Hickey, Lauren Hitchins

Subjects: Get full text

Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine by N. V. Olkhovych, N. G. Gorovenko

Subjects: Get full text

Lessons Learned from Pompe Disease Newborn Screening and Follow-up by Tracy L. Klug, Lori B. Swartz, Jon Washburn, Candice Brannen, Jami L. Kiesling

Subjects: Get full text

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles by Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell

Subjects: Get full text

Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis by Jesús A. Juárez‐Osuna, Sandra C. Mendoza‐Ruvalcaba, Angela Porras‐Dorantes, Thiago D. Da Silva‐José, José E. García‐Ortiz

Subjects: Get full text

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature by Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, Judith Boehringer, Benjamin Bender, Volkmar Gieselmann, Stefanie Beck‐Woedl, Gernot Bruchelt, Klaus Harzer, Ingeborg Kraegeloh‐Mann, Samuel Groeschel

Subjects: Get full text

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know by Mirella Filocamo, Rosella Tomanin, Francesca Bertola, Amelia Morrone

Subjects: Get full text

A Biochemical Platform to Define the Relative Specific Activity of <i>IDUA</i> Variants Identified by Newborn Screening by Seok-Ho Yu, Laura Pollard, Tim Wood, Heather Flanagan-Steet, Richard Steet

Subjects: Get full text

Molecular study of Pompe disease in Egyptian infants by Mona Essawi, Nagham ElBagoury, Engy Ashaat, Wessam Sharaf-Eldin, Ekram Fateen

Subjects: Get full text

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil by Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F.M. Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani

Subjects: Get full text

Newborn Screening for Pompe Disease by Takaaki Sawada, Jun Kido, Kimitoshi Nakamura

Subjects: Get full text

Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction by Patricia L. Hall, Rossana Sanchez, Arthur F. Hagar, S. Caleb Jerris, Angela Wittenauer, William R. Wilcox

Subjects: Get full text

Duchenne Muscular Dystrophy With Low Acidic α-Glucosidase Activity: Two Case Reports and Literature Review by Xiufang He, Xiufang He, Xuandi Li, Xuandi Li, Yuese Lin, Yuese Lin, Hongjun Ba, Hongjun Ba, Huimin Peng, Huimin Peng, Lili Zhang, Lili Zhang, Ling Zhu, Ling Zhu, Youzhen Qin, Youzhen Qin, Shujuan Li, Shujuan Li

Subjects: Get full text

Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease by Valentina Martinez‐Montoya, Luz María Sánchez‐Sánchez, Roberto Sandoval‐Pacheco, Diana Mónica Anaya Castro, Carmen Araceli Arellano‐Valdez, Carmen Amor Ávila‐Rejón, Pedro Alejandro Aguilar‐Juárez, Martín Espino‐Pluma, Cruz Antonio González‐Santillanes, Rosa Isela Martínez‐Segovia, Dorian Olmos‐Morfin, Ofelia Padilla‐De laTorre, Ishar Solís‐Sánchez, Mónica Vázquez‐Del Mercado Espinosa, Camilo Ernesto Villarroel‐Cortés, Jesús Salvador Velarde‐Félix, Jaime López‐Valdez, Julio Olaiz‐Urbina, Edgar Ricárdez‐Marcial, Imelda Vergara‐Sánchez, Pablo Radillo‐Díaz, Ekaterina Kazakova, Beatriz De la Fuente‐Cortez, Luz delCarmen Marquez‐Quiróz, Benjamín Torres‐Octavo, Rubicel Diaz‐Martinez

Subjects: Get full text

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity by Osvaldo Artigalás, Giorgio Paskulin, Mariluce Riegel, Maira Burin, Maria Luiza Saraiva-Pereira, Sharbel Maluf, Andrea Kiss, Ida Vanessa D. Schwartz

Subjects: Get full text