Type Ib glycogenosis: diagnosis, features of clinical manifestations

The article provides a clinical case of a child with type Ib glycogenosis, the early symptoms of type Ib glycogenosis are described - neutropenia, infectious complications (recurrent boils), poor weight gain in the first months of life. Attention was focused on the alertness of pediatrician doctors regarding non-specific clinical signs of the disease. The considered clinical case demonstrates the importance of a multidisciplinary approach to leading patients with glycogenosis Ib to prevent severe metabolic and infectious complications.

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Publication Details

Journal
Vrach
Published
2025-05-30
DOI
https://doi.org/10.29296/25877305-2025-05-14
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
0.00
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article

Type Ib glycogenosis: diagnosis, features of clinical manifestations

N. Ilyenkova, О. С. Коноплева, Е. Г. Нейман, E. Volnistova et al.
Vrach
Glycogen Storage Diseases and Myoclonus
article

Type Ib glycogenosis: diagnosis, features of clinical manifestations

N. Ilyenkova, О. С. Коноплева, Е. Г. Нейман, E. Volnistova, E. Khaliulina
article en

Abstract

The article provides a clinical case of a child with type Ib glycogenosis, the early symptoms of type Ib glycogenosis are described - neutropenia, infectious complications (recurrent boils), poor weight gain in the first months of life. Attention was focused on the alertness of pediatrician doctors regarding non-specific clinical signs of the disease. The considered clinical case demonstrates the importance of a multidisciplinary approach to leading patients with glycogenosis Ib to prevent severe metabolic and infectious complications.

Vrach
Krasnoyarsk State Medical University (RU), City Clinical Hospital No. 2 (RU)
Openalex Percentile: Top 81%
Glycogen Storage Diseases and Myoclonus
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