[图书][B] JIMD reports
J Zschocke, KM Gibson, G Brown, E Morava, V Peters - 2016 - Springer
JIMD reports JIMD Reports … JIMD Reports Volume 11 …
Protein structure reports in JIMD-an important enhancement of journal scope
B Rupp - Journal of inherited metabolic disease, 2011 - Springer
… -JIMD now accepts selected structure reports. The structure determination of human fumarate
hydratase (FH) by Picaud and colleagues in this issue provides the inaugural case (Picaud …
hydratase (FH) by Picaud and colleagues in this issue provides the inaugural case (Picaud …
… in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report
K Tomita, S Okamoto, T Seto, T Hamazaki, S So… - … reports, 2021 - Wiley Online Library
… This report highlights the marked differences in the clinical courses of two Japanese siblings
with MPS-II sharing the same genotype. Phenotypic differences were most notable in the …
with MPS-II sharing the same genotype. Phenotypic differences were most notable in the …
Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: an international questionnaire study
SC Grünert, A Venema, J LaFreniere… - … reports, 2023 - Wiley Online Library
… More than 80% of patients reported an improved quality of life. The number of … symptoms
was reported by the majority of patients. Additionally, patients or caregivers reported positive …
was reported by the majority of patients. Additionally, patients or caregivers reported positive …
Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review
C Videbæk, J Stokholm, H Sengeløv… - … reports, 2021 - Wiley Online Library
Two siblings were diagnosed with adult metachromatic leukodystrophy (MLD) and treated
with hematopoietic stem cell transplantation (HSCT). While the older sibling was symptomatic …
with hematopoietic stem cell transplantation (HSCT). While the older sibling was symptomatic …
Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review
CJ de Bode, EJ Dogterom, AVJ Rozeboom… - … reports, 2022 - Wiley Online Library
… literature on this topic solely consists of case reports, small case series, and small cohort …
Both clinical studies and case reports were included. Outcome was the described orofacial …
Both clinical studies and case reports were included. Outcome was the described orofacial …
[图书][B] JIMD Reports
E Morava, MR Baumgartner, M Patterson, S Rahman… - 2017 - Springer
JIMD Reports JIMD Reports … JIMD Reports Volume 41 …
Opportunities and challenges in machine learning‐based newborn screening—A systematic literature review
The development and continuous optimization of newborn screening (NBS) programs remains
an important and challenging task due to the low prevalence of screened diseases and …
an important and challenging task due to the low prevalence of screened diseases and …
Clinical features of Japanese patients with acute hepatic porphyria
Y Horie, Y Yasuoka, T Adachi - JIMD reports, 2023 - Wiley Online Library
Acute hepatic porphyria (AHP) is a family of rare genetic diseases of heme biosynthesis
characterized by severe neurovisceral attacks. The clinical characteristics of patients with AHP …
characterized by severe neurovisceral attacks. The clinical characteristics of patients with AHP …
Liver Transplant From a Deceased Donor With Cystinosis: A Case Report
R Taj, K Ng, SR Cuddapah, EB Rand, M Bleicher… - … reports, 2025 - Wiley Online Library
… We present the first known report of liver transplantation from a deceased donor with
cystinosis. The donor was a 20‐year‐old male with infantile cystinosis who had previously …
cystinosis. The donor was a 20‐year‐old male with infantile cystinosis who had previously …