Newborn screening for lysosomal storage diseases: an ethical and policy analysis

Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease

(2011) Seiji Saito et al.   JOURNAL OF HUMAN GENETICS

Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening

(2011) Yin-Hsiu Chien et al.   JOURNAL OF PEDIATRICS

Weighing the evidence for newborn screening for early-infantile Krabbe disease

(2010) Alex R Kemper et al.   GENETICS IN MEDICINE

CRIM-negative infantile Pompe disease: 42-month treatment outcome

(2010) Marianne Rohrbach et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Expanded newborn screening: reducing harm, assessing benefit

(2010) Bridget Wilcken   JOURNAL OF INHERITED METABOLIC DISEASE

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

(2010) Anupam Chakrapani et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

(2010) S. Mercimek-Mahmutoglu et al.   MOLECULAR GENETICS AND METABOLISM

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

(2009) Patricia K Duffner et al.   GENETICS IN MEDICINE

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A)

(2009) Wuh-Liang Hwu et al.   HUMAN MUTATION

Fabry Disease: Treatment and diagnosis

(2009) Paula A. Rozenfeld   IUBMB LIFE

Screening for Fabry disease in high-risk populations: a systematic review

(2009) G. E. Linthorst et al.   JOURNAL OF MEDICAL GENETICS

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

(2009) S. Strothotte et al.   JOURNAL OF NEUROLOGY

Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease

(2009) Lei-Ru Chen et al.   JOURNAL OF PEDIATRICS

High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

(2009) Shingo Kumamoto et al.   MOLECULAR GENETICS AND METABOLISM

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

(2009) Georgianne L. Arnold et al.   MOLECULAR GENETICS AND METABOLISM

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

(2009) Paul Labrousse et al.   MOLECULAR GENETICS AND METABOLISM

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

(2009) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease

(2009) Nancy J. Mendelsohn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Newborn Screening for Krabbe Disease: the New York State Model

(2009) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

The Vulnerable Child Syndrome

(2009) F. Kokotos et al.   PEDIATRICS IN REVIEW

Revisting wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

(2008) Anne Andermann   BULLETIN OF THE WORLD HEALTH ORGANIZATION

Newborn Screening for Pompe Disease by Measuring Acid  -Glucosidase Activity Using Tandem Mass Spectrometry

(2008) A. Dajnoki et al.   CLINICAL CHEMISTRY

Glycogen storage disease type II (Pompe disease) - influence of enzyme replacement therapy in adults

(2008) T. Merk et al.   EUROPEAN JOURNAL OF NEUROLOGY

Finding the fertile woman with phenylketonuria

(2008) William B. Hanley   European Journal of Obstetrics & Gynecology and Reproductive Biology

The Hunter's Hope Krabbe Family Database

(2008) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

(2008) Robert J Hopkin et al.   PEDIATRIC RESEARCH

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

(2008) Y.-H. Chien et al.   PEDIATRICS