<i>S</i> -adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism

Ivo Barić, Ksenija Fumić, B. Glenn, +17

Proceedings of the National Academy of Sciences

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Bryan Winchester, Deeksha Bali, Olaf A. Bodamer, +25

Molecular Genetics and Metabolism

Medical DiagnosticsPompe DiseaseInternational Consensus MeetingEngineeringMedicine +8

Novel<i>OCTN2</i>mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy

Anne‐Marie Lamhonwah, S. E. Olpin, R. J. Pollitt, +12

American Journal of Medical Genetics

<i>S</i>‐Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

Ivo Barić, M. Ćuk, Ksenija Fumić, +13

Journal of Inherited Metabolic Disease

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Marian A. Kroos, Marianne Hoogeveen‐Westerveld, Helen Michelakakis, +43

Human Mutation

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency

Iva Karačić, David Meili, Vladimir Sarnavka, +7

Molecular Genetics and Metabolism

Croatian PatientsMendelian DisorderBiochemistryGenetic DisorderGenotype-predicted Tetrahydrobiopterin +8

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

Doris Hofer, Karl Paul, Katrin Fantur, +10

Human Mutation

EngineeringGeneticsGlycobiologyPathologyMolecular Genetics +18

Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I

Višnja Tokić, Ingeborg Barišić, Nevenka Huzjak, +3

European Journal of Pediatrics

Advanced SevereEnzyme Replacement TherapyPathologyMedicineLysosomal Storage Disease

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

Andrea Dardis, Helen Michelakakis, Paula Rozenfeld, +8

Orphanet Journal of Rare Diseases

Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type<scp>II</scp>

Lenka Dvořáková, Hana Vlášková, Adrijan Sarajlija, +16

Clinical Genetics

Neurological DisorderImmunodeficienciesGenetic EpidemiologyPathologyMucopolysaccharidosis Type Ii +18