"Developmental Delay" search results...

This presentation describes a 1-year-old boy with neurodevelopmental delay, hepatosplenomegaly, and severe hypotonia.

POMPE

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

2022-01-04

The aim of this study was to determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS).

ALFA-MANNOSIDOZ

Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene

2021-09-16

This article presents a 7-year-old girl child, born of a consanguineous marriage, presented with developmental delay, seizures, and hearing impairment.

MPS

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

2021-08-16

Diagnosis of MPS type IIIB should be remembered in cases presenting with neurodevelopmental and neuropsychiatric problems.

NCL

Neuronal Ceroid Lipofuscinoses in Children

2021-03-01

Neuronal ceroid lipofuscinoses (NCL) is not uncommon and diagnosis can be suspected based on clinical investigations and neuroimaging findings.

Rare Diseases

Current bibliography for experts

Rare Diseases

Current bibliography for experts

NIEMANN-PICK

Niemann-Pick type A disease with new mutation: A case report

POMPE

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

ALFA-MANNOSIDOZ

Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene

MPS

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

NCL

Neuronal Ceroid Lipofuscinoses in Children

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