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Publications in Internal Medicine

Tyrosine Hydroxylase Deficiency—Clinical Insights and a Novel Deletion in TH Gene in an Indian Patient

JIMD Reports

English

A Novel Double Mutation in the ABCD1 Gene in a Patient With X-Linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein

English

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

English

A Hunter Patient With a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus

English

Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype

English

Networking Across Borders for Individuals With Organic Acidurias and Urea Cycle Disorders: The E-Imd Consortium

English

Breast Abnormalities Segmentation Using the Wavelet Transform Coefficients Aggregation

Iranian Journal of Breast Diseases

English

Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient With Rare, Complex MPS I

English

The Effect of Basal Analog Insulin on the Glycemic Variability in Type 2 Diabetics

Turkish Journal of Endocrinology and Metabolism

English

The Effect of Multimodal Exercise Training Program in Subject With Type 2 Diabetes Mellitus

Turkish Journal of Endocrinology and Metabolism

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications in Internal Medicine

Tyrosine Hydroxylase Deficiency—Clinical Insights and a Novel Deletion in TH Gene in an Indian Patient

A Novel Double Mutation in the ABCD1 Gene in a Patient With X-Linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

A Hunter Patient With a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus

Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype

Networking Across Borders for Individuals With Organic Acidurias and Urea Cycle Disorders: The E-Imd Consortium

Breast Abnormalities Segmentation Using the Wavelet Transform Coefficients Aggregation

Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient With Rare, Complex MPS I

The Effect of Basal Analog Insulin on the Glycemic Variability in Type 2 Diabetics

The Effect of Multimodal Exercise Training Program in Subject With Type 2 Diabetes Mellitus