4.1 Article

Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies

Karolina Pierzynowska et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Review Biochemistry & Molecular Biology

Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches

Noelia Beneto et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Review Genetics & Heredity

Epidemiology of Sanfilippo syndrome: results of a systematic literature review

Tamas Zelei et al.

ORPHANET JOURNAL OF RARE DISEASES (2018)

Review Psychology, Developmental

Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review

C. Wolfenden et al.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2017)

Review Genetics & Heredity

Sanfilippo syndrome: causes, consequences, and treatments

Anthony O. Fedele

APPLICATION OF CLINICAL GENETICS (2015)

Review Endocrinology & Metabolism

Newborn screening and diagnosis of mucopolysaccharidoses

Shunji Tomatsu et al.

MOLECULAR GENETICS AND METABOLISM (2013)

Article Genetics & Heredity

Natural history of Sanfilippo syndrome in Spain

Veronica Delgadillo et al.

ORPHANET JOURNAL OF RARE DISEASES (2013)

Article Genetics & Heredity

Incidence and Natural History of Mucopolysaccharidosis Type III in France and Comparison with United Kingdom and Greece

Benedicte Heron et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Endocrinology & Metabolism

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

Marlies J. Valstar et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

Article Endocrinology & Metabolism

Sanfilippo syndrome: A mini-review

M. J. Valstar et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2008)

Article Genetics & Heredity

Is Sanfilippo type B in your mind when you see adults with mental retardation and Behavioral problems?

Ute Moog et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2007)