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D

David Whiteman

eberhard karls university hospital

H指数:30

被引数:2,381

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Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review

新生儿筛查异染性脑白质营养不良：一项系统文献综述

International Journal of Neonatal Screening

IF4

2026-03-030

OAAI

Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey

Molecular Genetics and Metabolism

IF3.5

2026-01-120

PRE

Automated Deep Learning-Based Demyelination Load Segmentation in Metachromatic Leukodystrophy

基于深度学习的脑白质营养不良脱髓鞘负荷自动分割

Clinical Neuroradiology

IF2.6

2026-01-010

PRE

Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the hunter outcome survey

黏多糖贮积症II型患者18年临床特征与真实世界结局：Hunter结局调查最终报告

Molecular Genetics and Metabolism

IF3.5

2025-11-020

PRE

A link between baseline neurofilament light chain and primary substrate accumulation in cerebrospinal fluid, and clinical outcomes in patients with MPS II from a phase 2/3 clinical trial and extension study of intrathecal idursulfase

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-03-010

PRE

Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-09-011

OAAI

Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-04-120

OAAI

Advancing clinical development for neuronopathic Hunter syndrome through a quantitatively-driven reverse translation framework

CTS-CLINICAL AND TRANSLATIONAL SCIENCE

IF2.8

2024-03-280

OA

Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo syndrome) type IIIA

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-012

PRE

A phase 2 study assessing TAK-611150 mg intrathecal weekly in patients with late-infantile metachromatic leukodystrophy (SHP611-201; EMBOLDEN) compared to matched historical control data from children with late-infantile MLD (GLIA-MLD)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-010

PRE

Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2023-12-265

OA

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study (vol 137, pg 127, 2022)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-11-010

OAAI

Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-11-011

OAAI

Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II (vol 137, pg 22, 2022)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-11-010

OAAI

Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-09-018

OAAI

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-09-0124

PRE

The effect of intrathecal recombinant arylsulfatase A therapy on demyelination load in children with metachromatic leukodystrophy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-010

PRE

Clinical investigator perspectives on the effects of intrathecal idursulfase-IT treatment in children with neuronopathic mucopolysaccharidosis type II

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-010

PRE

Fifteen years of the Hunter Outcome Survey (HOS): Real-world insights into the patient population living with mucopolysaccharidosis type II (MPS II)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-010

PRE

Novel insights into mucopolysaccharidosis type II based on an analysis of genetic variants in 763 patients

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-010

PRE