Suchergebnisse - "Jiang, Huafang"

PubPharm (17)

1

Establishment of an iPSC line (BCHNDi001-A) from a patient with nicotinamide nucleotide repair system deficiency caused by biallelic NAXD mutations

enthalten in: Stem cell research | 2024

von Xu, C. | Zhou, L. | Jiang, H. | +4

2

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history

enthalten in: ResearchSquare.com | 2024

von Jiang, H. | Xu, C. | Duan, R. | +11

3

Generation of an induced pluripotent stem cell line (BCHNCi003-A) from a patient with mitochondrial pyruvate carrier deficiency caused by biallelic MPC1 mutations

enthalten in: Stem cell research | 2023

von Jiang, H. | Xu, C. | Li, W. | +2

4

Thiamine pyrophosphokinase deficiency : report of two Chinese cases and a literature review

enthalten in: Frontiers in pediatrics | 2023

von Zhao, D. | Liu, M. | Jiang, H. | +7

5

TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels

enthalten in: Journal of inherited metabolic disease | 2022

von Muylle, E. | Jiang, H. | Johnsen, C. | +9

6

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency

enthalten in: Journal of inherited metabolic disease | 2022

von Jiang, H. | Alahmad, A. | Fu, S. | +15

7

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency

enthalten in: Journal of Inherited Metabolic Disease | 2022

von Jiang, H. | Alahmad, A. | Fu, S. | +15

8

TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels

enthalten in: Journal of Inherited Metabolic Disease | 2022

von Muylle, E. | Jiang, H. | Johnsen, C. | +9

9

Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia

enthalten in: Annals of neurology | 2021

von Schob, C. | Hempel, M. | Safka Brozkova, D. | +14

CommentIn: Ann Neurol. 2022 May;91(5):730-732. - PMID 34825409

10

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

enthalten in: Annals of Neurology | 2021

von Schob, C. | Hempel, M. | Safka Brozkova, D. | +14