Related references
Note: Only part of the references are listed.The Changing Landscape of Fabry Disease
Einar Svarstad et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2020)
Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome
Andreas Thimm et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2020)
Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients
Veronica Arora et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2020)
Neurological symptoms in Hypophosphatasia
J. M. Colazo et al.
OSTEOPOROSIS INTERNATIONAL (2019)
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosisA cross-sectional study
Tomas Slama et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2019)
Hypophosphatemic Rickets
Martin Bitzan et al.
PEDIATRIC CLINICS OF NORTH AMERICA (2019)
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Dieter Haffner et al.
NATURE REVIEWS NEPHROLOGY (2019)
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases
Daphne Lehalle et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
Audiological and Vestibular Findings in Subjects with MELAS Syndrome
Dan Dupont Hougaard et al.
JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY (2019)
Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) Ilb
Min Li et al.
JOURNAL OF HUMAN GENETICS (2019)
Cochlear Implantation in Refsum Disease with Facial Nerve Enlargement
Mihaela Horoi et al.
OTOLOGY & NEUROTOLOGY (2019)
Auditory Characteristics in Patients With Mucopolysaccharidosis
Jungmin Ahn et al.
OTOLOGY & NEUROTOLOGY (2019)
A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder
Akemi J. Tanaka et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2019)
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA
Maria Blomqvist et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2019)
Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome
Phoebe Anderson et al.
COCHLEAR IMPLANTS INTERNATIONAL (2019)
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Jose R. M. Ceroni et al.
GENETICS AND MOLECULAR BIOLOGY (2018)
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
Douglas Chesher et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Neurophysiology of hearing in patients with mucopolysaccharidosis type IV
Kyoko Nagao et al.
MOLECULAR GENETICS AND METABOLISM (2018)
Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review
Arianna Di Stadio et al.
ORPHANET JOURNAL OF RARE DISEASES (2018)
Newborn Screening History, Current Status, and Future Directions
Ayman W. El-Hattab et al.
PEDIATRIC CLINICS OF NORTH AMERICA (2018)
Inborn Errors of Metabolism Overview Pathophysiology, Manifestations, Evaluation, and Management
Jean-Marie Saudubray et al.
PEDIATRIC CLINICS OF NORTH AMERICA (2018)
Audiometric evaluation in individuals with muco-polysaccharidosis
Marcela Rosana Maia da Silveira et al.
CLINICS (2018)
ENT and mucopolysaccharidoses
Pier Marco Bianchi et al.
ITALIAN JOURNAL OF PEDIATRICS (2018)
Inborn errors of metabolism in the 21st century: past to present
Georgianne L. Arnold
ANNALS OF TRANSLATIONAL MEDICINE (2018)
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options
Ida Annunziata et al.
EXPERT OPINION ON ORPHAN DRUGS (2017)
Hearing loss in children with Fabry disease
E. Suntjens et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion
Xiaoping Huang et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia
S. C. Gruenert et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Audiological findings in children with mucopolysaccharidoses type I-IV
Maria F. Vargas-Gamarra et al.
ACTA OTORRINOLARINGOLOGICA ESPANOLA (2017)
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Roeltje R. Maas et al.
ANNALS OF NEUROLOGY (2017)
Cochlear Implantation in Siblings With Refsum's Disease
Kerstin Staehr et al.
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2017)
Human disorders of peroxisome metabolism and biogenesis
Hans R. Waterham et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2016)
Otorhinolaryngological, audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C
Rezarta Taga Senirli et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2016)
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
Fulya Taylan et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2016)
Expanded phenotypic spectrum of the m.8344A>G MERRF mutation: data from the German mitoNET registry
Judith Altmann et al.
JOURNAL OF NEUROLOGY (2016)
Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1
Shwetha Chiplunkar et al.
METABOLIC BRAIN DISEASE (2016)
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
Nancy E. Braverman et al.
MOLECULAR GENETICS AND METABOLISM (2016)
The impact of laronidase treatment in otolaryngological manifestations of patients with mucopolysaccharidosis
Ana Paula Fiuza Funicello Dualibi et al.
BRAZILIAN JOURNAL OF OTORHINOLARYNGOLOGY (2016)
Visual Cross-Modal Re-Organization in Children with Cochlear Implants
Julia Campbell et al.
PLOS ONE (2016)
Heterozygous mutations in HISD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
David J. Amor et al.
NEUROLOGY-GENETICS (2016)
Audiological findings in Infantile Refsum disease
V. P. Vandana et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2015)
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation
R. Chandran et al.
JOURNAL OF LARYNGOLOGY AND OTOLOGY (2015)
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options
Ayman W. El-Hattab et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy
Joanna J. Gan et al.
NEUROMUSCULAR DISORDERS (2015)
Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up
Edyta Szymanska et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2015)
ALG11-CDG: Three novel mutations and further characterization of the phenotype
L. Regal et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2015)
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
Asbjorg Stray-Pedersen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Refsum's Disease and Cochlear Implantation
Claudia Nogueira et al.
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY (2014)
Hearing Loss Is Part of the Clinical Picture of ENPP1 Loss of Function Mutation
C. Brachet et al.
HORMONE RESEARCH IN PAEDIATRICS (2014)
Hearing Loss is an Early Consequence of Npc1 Gene Deletion in the Mouse Model of Niemann-Pick Disease, Type C
Kelly A. King et al.
JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY (2014)
The natural course and complications of alpha-mannosidosis-a retrospective and descriptive study
Dag Malm et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses
Hsiang-Yu Lin et al.
MOLECULAR GENETICS AND METABOLISM (2014)
MUTATIONS IN RIBOFLAVIN TRANSPORTER PRESENT WITH SEVERE SENSORY LOSS AND DEAFNESS IN CHILDHOOD
Myriam Srour et al.
MUSCLE & NERVE (2014)
Neurotologic and Functional MRI Findings in a Patient With Bilateral Profound Deafness Having Brown–Vialetto–Van Leare Syndrome
Cinzia Salmina et al.
OTOLOGY & NEUROTOLOGY (2014)
Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects
Dong-Hui Chen et al.
HUMAN MUTATION (2013)
Prevalence of hearing loss in patients with late-onset Pompe disease: Audiological and otological consequences
F. Hanisch et al.
INTERNATIONAL JOURNAL OF AUDIOLOGY (2013)
Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options
Ayman W. El-Hattab et al.
NEUROTHERAPEUTICS (2013)
Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
Peter Huppke et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Prenatal symptoms and diagnosis of inherited metabolic diseases
A. Brassier et al.
ARCHIVES DE PEDIATRIE (2012)
MELAS: A nationwide prospective cohort study of 96 patients in Japan
Shuichi Yatsuga et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2012)
The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy)
H. I. El Hajj et al.
ENDOCRINOLOGY (2012)
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
Annet M. Bosch et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
Annet M. Bosch et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice
Xudong Wu et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2010)
Hearing loss in Pompe disease revisited: results from a study of 24 children
Carine I. van Capelle et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Mucopolysaccharidosis VI
Vassili Valayannopoulos et al.
ORPHANET JOURNAL OF RARE DISEASES (2010)
CDG nomenclature: Time for a change!
Jaak Jaeken et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey
A. Keilmann et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation
J. Jaeken et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
Hearing loss and fluctuating hearing levels in X-linked hypophosphataemic osteomalacia
G. Pantel et al.
JOURNAL OF LARYNGOLOGY AND OTOLOGY (2009)
Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A > G mitochondrial point mutation
R. Murphy et al.
DIABETIC MEDICINE (2008)
Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy
A. Palla et al.
JOURNAL OF NEUROLOGY (2007)
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
Marc C. Patterson et al.
LANCET NEUROLOGY (2007)
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
Rosalba Carrozzo et al.
BRAIN (2007)
Peroxisome biogenesis disorders
Steven J. Steinberg et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2006)
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation
S Wortmann et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Atypical Gilles de la Tourette syndrome with beta-mannosidase deficiency
F Sedel et al.
ARCHIVES OF NEUROLOGY (2006)
Clinical and biochemical spectrum of D-bifunctional protein deficiency
S Ferdinandusse et al.
ANNALS OF NEUROLOGY (2006)
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism
R Horváth et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Sensorineural hearing loss in children
RJH Smith et al.
LANCET (2005)
Effective treatment of α-mannosidosis by allogeneic hematopoietic stem cell transplantation
SS Grewal et al.
JOURNAL OF PEDIATRICS (2004)
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome
WH Lagarde et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Brain-stem auditory and visual evoked potentials in children with Krabbe disease
M Aldosari et al.
CLINICAL NEUROPHYSIOLOGY (2004)
Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse
JHJ Kamphoven et al.
NEUROBIOLOGY OF DISEASE (2004)
Neurologic manifestations of Kanzaki disease
F Umehara et al.
NEUROLOGY (2004)
Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy
MA Kurian et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2004)
Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients
BT Poll-The et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Hearing loss in adult Refsum's disease
DE Bamiou et al.
CLINICAL OTOLARYNGOLOGY (2003)
Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion
AU Ahmmed et al.
JOURNAL OF LARYNGOLOGY AND OTOLOGY (2003)
Hearing loss in Fabry disease: The effect of agalsidase alfa replacement therapy
D Hajioff et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2003)
Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice
K Oishi et al.
HUMAN MOLECULAR GENETICS (2002)
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency
AJ Heller et al.
HEARING RESEARCH (2002)
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency
B Wolf et al.
JOURNAL OF PEDIATRICS (2002)
Peroxisomal acyl CoA oxidase deficiency
Y Suzuki et al.
JOURNAL OF PEDIATRICS (2002)
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation
AS Wierzbicki et al.
JOURNAL OF NEUROCHEMISTRY (2002)
The site of the hearing loss in Refsum's disease
C Oysu et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2001)
Maternally inherited diabetes and deafness: A multicenter study
PJ Guillausseau et al.
ANNALS OF INTERNAL MEDICINE (2001)
A new case of α-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation
K Kodama et al.
BRITISH JOURNAL OF DERMATOLOGY (2001)